(used for variant description)
(last modified December 17, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_001010867.2 in the IBA57 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering IBA57 transcript NM_001010867.2.
(upstream sequence)
. . g.5029
ctccctccggcggccaccgccaggggccg c.-61
. . . . . . g.5089
ctgtggcacccgcccctcccgcttccttgggcccttcccgctgccccactcttgtccaag c.-1
. . . . . . g.5149
ATGGCGACCGCGGCGCTGCTTCGAGGCGCCACTCCGGGGCGCGGCGGCCCGGTCTGGCGC c.60
M A T A A L L R G A T P G R G G P V W R p.20
. . . . . . g.5209
TGGCGGCTGCGCGCGGCCCCAAGGTGCCGCCTGGCCCACAGCTCCTGCAGTCCTGGTGGC c.120
W R L R A A P R C R L A H S S C S P G G p.40
. . . . . . g.5269
GACCCAACGGCCGGAGCGGCCTGGGCCTGCTTCCGGCTGGACGGGCGCACCCTGCTGCGC c.180
D P T A G A A W A C F R L D G R T L L R p.60
. . . . . . g.5329
GTGCGTGGCCCCGACGCGGCGCCCTTCCTGCTAGGGCTGCTGACCAATGAACTGCCGCTT c.240
V R G P D A A P F L L G L L T N E L P L p.80
. . . . . . g.5389
CCGAGTCCTGCGGCCGCGGGGGCCCCGCCTGCTGCGCGCGCGGGCTACGCCCACTTCCTG c.300
P S P A A A G A P P A A R A G Y A H F L p.100
. . . . | 02 . . g.13983
AACGTGCAGGGCCGGACGCTCTATGACGTCATCTTGTACGG | GCTCCAGGAACACTCGGAG c.360
N V Q G R T L Y D V I L Y G | L Q E H S E p.120
. . . . . . g.14043
GTGTCTGGCTTCCTTCTGGAGTGTGACAGCTCGGTGCAGGGCGCGCTGCAGAAGCACCTC c.420
V S G F L L E C D S S V Q G A L Q K H L p.140
. . . . . . g.14103
GCGCTATACAGGATCCGGCGGAAGGTCACGGTGGAGCCGCACCCGGAGCTGCGAGTGTGG c.480
A L Y R I R R K V T V E P H P E L R V W p.160
. . . . . . g.14163
GCGGTGTTGCCCAGTTCCCCTGAGGCCTGCGGGGCTGCATCGCTGCAGGAGAGGGCAGGG c.540
A V L P S S P E A C G A A S L Q E R A G p.180
. . . . . . g.14223
GCTGCCGCCATCCTCATCCGCGACCCGCGAACAGCACGCATGGGGTGGCGGCTCCTCACC c.600
A A A I L I R D P R T A R M G W R L L T p.200
. . . . . . g.14283
CAGGATGAAGGCCCAGCCCTGGTGCCCGGGGGCCGGCTCGGGGACTTGTGGGATTATCAC c.660
Q D E G P A L V P G G R L G D L W D Y H p.220
. | 03 . . . . g.14435
CAGCACCGATACCTGCAAG | GCGTTCCTGAGGGGGTCCGAGACTTGCCTCCTGGGGTGGCC c.720
Q H R Y L Q G | V P E G V R D L P P G V A p.240
. . . . . . g.14495
CTGCCCCTGGAGTCCAACCTGGCCTTCATGAACGGCGTGAGCTTCACCAAAGGCTGCTAC c.780
L P L E S N L A F M N G V S F T K G C Y p.260
. . . . . . g.14555
ATTGGCCAGGAGCTGACGGCCCGCACCCACCACATGGGCGTCATCCGCAAGCGCCTCTTC c.840
I G Q E L T A R T H H M G V I R K R L F p.280
. . . . . . g.14615
CCTGTCCGGTTCTTGGACCCCCTTCCCACCAGTGGCATCACCCCTGGTGCCACGGTGCTG c.900
P V R F L D P L P T S G I T P G A T V L p.300
. . . . . . g.14675
ACTGCCTCAGGACAGACTGTGGGCAAGTTCAGGGCTGGCCAGGGCAACGTGGGGCTGGCC c.960
T A S G Q T V G K F R A G Q G N V G L A p.320
. . . . . . g.14735
CTGCTGTGGTCAGAGAAGATCAAGGGTCCTCTGCACATCAGAGCCTCTGAGGGTGCCCAG c.1020
L L W S E K I K G P L H I R A S E G A Q p.340
. . . . . g.14786
GTGGCCTTAGCCGCATCTGTGCCAGACTGGTGGCCTACAGTCTCCAAGTAG c.1071
V A L A A S V P D W W P T V S K X p.356
. . . . . . g.14846
tccgaagccttggctggcgcaggctgatggggaggctggggcctggggcctttggcctct c.*60
. . . . . . g.14906
gtccagggtcttcccgtcccatctgtctgctgcgcctactgggtgggagccctggtttcc c.*120
. . . . . . g.14966
atctgggaaagtcccccttgtaggtgccctgcctggccccacccatgctcaggggcccca c.*180
. . . . . . g.15026
ggcacgtgggttgttttctccctggacttcctgtggccccagaggagcccaccgtgtgag c.*240
. . . . . . g.15086
tgctgggctccagatggcgccgggtcccaatcgtggctccacacagggttgtctgggagg c.*300
. . . . . . g.15146
acgggacggtgtctctggccagcactggcagcttccgggccttgtaccccactctgcctg c.*360
. . . . . . g.15206
gcatgagcctcatggggggttggtccctgtgcctggaagcggggtggtgtccagggtctg c.*420
. . . . . . g.15266
caggctggggctcgggctttgggagttgtttcactgtgcttgcttccagcatgtctcagg c.*480
. . . . . . g.15326
gtggggctatgcgtggtctagaggggtctggggcattggatcaggtggcatgtgggtgtc c.*540
. . . . . . g.15386
tacacatcgagaagcacacagggatgagccactaggtatcccatgctggaggcttgtgga c.*600
. . . . . . g.15446
aggctgtgcccatctcccatgtttccccacctctgttcctcctcagagccctccaggagc c.*660
. . . . . . g.15506
gtggggtgggggccagcgcagggctcaggagccagcagggcagagttctgcctgtgtgtg c.*720
. . . . . . g.15566
ctgggttttggcatagcctgtgtttgcagtgagagtgacttgctgtcagtcacggggcac c.*780
. . . . . . g.15626
agcctcctgttcacccactggcttcccccttcccactgaagtgtgagctctatgtttcag c.*840
. . . . . . g.15686
ggcatctattaaagagtgagccacaggcagccccttgggagctctggtttcatttggggg c.*900
. . . . . . g.15746
agagggaggtgggggcttagtttttgtgatctggctgactggaccccgggaacagcgctc c.*960
. . . . . . g.15806
ctttgagaacgcccagacctaccagatgaagcacttggcatggctgcaggccagcagggg c.*1020
. . . . . . g.15866
aggcctcagaggcccaggctgggcacgtgggtgccgagtctgcaaaggacagccccatgg c.*1080
. . . . . . g.15926
ctgtgagctgtcggctgcagggcgcagggcctggggggcaggcgtttgggccaccaagct c.*1140
. . . . . . g.15986
ggacgttagggtggccacagagggccaagcaggcagggagcctgtgccgccatcctgggg c.*1200
. . . . . . g.16046
ggccacaggtgctctctagaaatctgcagccatggcggttttggggtcaggggtctaaag c.*1260
. . . . . . g.16106
gcagctctgagctgcagtgtagtttgtgatcacccaggaggagggtgtagagcggatgga c.*1320
. . . . . . g.16166
cgggaggaagcggctgcagctggagggaagagaggggccgtccagcctcacccgctgcag c.*1380
. . . . . . g.16226
tcagctctcctatgggcaaggaaacagctaggtggccctgacccctgcggtcctgagagc c.*1440
. . . . . . g.16286
cggtggccttcagcccctcttggacaggtcatggtctggaagcgcccagcgcaggatgga c.*1500
. . . . . . g.16346
ttccagaccagcatccctgcaaccttttcagccccactggctgctgctttaaactggcat c.*1560
. . . . . . g.16406
ggagacatttgatcagcttcccagccagttttctctccagctcagccaggagtgggtgcc c.*1620
. . . . . . g.16466
tgtggcctgtgtcaccaagagctggtgtctcctgcatgaggggcatgcacccctggaatg c.*1680
. . . . . . g.16526
agggtctgtgcctcgagctcaaagtgtcccggctctgtcatctgcctgaagttgcctggc c.*1740
. . . . . . g.16586
ttttccagtggggcctccttgagtgctgcagcatctgggagcatcctagcctgtcccgtg c.*1800
. . . . . . g.16646
ggtgtggctgggtgagggctaggaggtgagccaggaaggaagcactccactccagagtga c.*1860
. . . . . . g.16706
ggtgccgcctgagccatcctgtgccccctcagtgtcttcaggtctctgcaggtgtcagga c.*1920
. . . . . . g.16766
tctcaaaatacttggttcagatcaaacacatttcgtgttcttctgtgtcctttttttttt c.*1980
. . . . . . g.16826
ttttttttttttttgagatggagtcttgctctgttggccaggctggagctcagtggcaca c.*2040
. . . . . . g.16886
atctctgctcactgcaacctctgcctcccaggttccagtgattttcctgcctcagcctcc c.*2100
. . . . . . g.16946
tgggtagctgggactacaggcacatgccccatgcccggctaatttttgtatttttagtag c.*2160
. . . . . . g.17006
agatggggttttaccatgttggccaggatggtctcaattacaggcatgagccactgtgcc c.*2220
. . . . . . g.17066
cagcctcttctgtgtctttaaaaaggaaagtgtcagtcaacaaaagagcccctctgtcat c.*2280
. . . . . . g.17126
acaaaccaaatcagttttcaccaaaatgtccttagtcctctcagaaaggcctggccttta c.*2340
. . . . . . g.17186
ggaccttggaagcaggccctaaagcgcatcggcagggtcagagctttgtgttcaggaaca c.*2400
. . . . . . g.17246
ctgggatctgctgagagctggtgtagccgctccaaaactgcacactgcttttcctgtctg c.*2460
. . . . . . g.17306
ctttagtttgtgttgtaaaaacataggaagttcgtgtgtgtgtgtgtgtgtgtgaattca c.*2520
. . . . . . g.17366
aggcataaggtgcagttgtgttatgtgggtatagtgcatggtggtgcagtctgggcttct c.*2580
. . . . . . g.17426
taccctcacacctcctgcctcccctcgttagagtcccccacatccgccttccactttctg c.*2640
. . . . . . g.17486
agcccacattgcctgttgggcagctcctggttatgaggcaggacgtgtggtgtttgactg c.*2700
. . . . . . g.17546
tctgtttctgagctgttttacttaacacagtgtatatggtgcatctttaggaaagcatgc c.*2760
. . . . . . g.17606
ttgtattttcctttcaaagccagatatgggcgggtgtggtggctcatgcctgtgatccca c.*2820
. . . . . . g.17666
gcactttgggaggccgaggcaggaggattgcttgagcccaggagtttgagagcagcctgg c.*2880
. . . . . . g.17726
gcaacatatcaagactctgtctcttaaaaaaaaaaaaattagccaggcatggtggtccac c.*2940
. . . . . . g.17786
acctgtggtcccacctattcgggaggctgaagtgcgaggatcacttgagcccaggaggtt c.*3000
. . . . . . g.17846
gaggctgcagtgagctgtgattgtgccactgcactccagcctgggcaacagagcaagacc c.*3060
. . . . . . g.17906
ctgtcttaaaacaaagaaagaataaaaaagaagagaagttgcagttggtagtatttccag c.*3120
. . . . . . g.17966
agcccggcagacagtgtagaaactgtgagaaacccacctccaaatcaggccttagataga c.*3180
. . . . . . g.18026
aaacatcctaagaagtatacgttcattgtaaaatcattatcatcatcatcttctaatccc c.*3240
. . . . . . g.18086
caaggagacaagctccctgttctgtgttcttgtatgaggcggtcagtcaagcgcagcccg c.*3300
. . . . . . g.18146
agaggagaggcaggagcctgggagagcctctgctagacctttcctggcacttccccagga c.*3360
. . . . . . g.18206
aaggcaaggcagggcagatgtgcggctggccagctggagtgatttccatgggctccaagc c.*3420
. . . . . . g.18266
tgtaggagtggtccctggctgccagagtgctctggccagatagaggtgggctctggactg c.*3480
. . . . . . g.18326
gtgaggctgcattgcggaggcgcgcacacccagctgggcccttatctgtaaggactggct c.*3540
. . . . . . g.18386
ggcctgggaggggcagtctcccagccagaaggtggaatttttttttttttttgagatacc c.*3600
. . . . . . g.18446
aaaacatcctaaggtacaggaaagaaattgtcaacacacacacacagtaccataaacaag c.*3660
. . . . . . g.18506
gcccagcagaaaggcagacagaagcacacacaccaatgttctgatcttagagtaagcaga c.*3720
. . . . . . g.18566
cacatcacatggaatgaggatgtttaatatatttaaagaaaacaatttatgcacaggaag c.*3780
. . . . . . g.18626
caagagactataaaaatgaccaagcagattttaaaaagagaacttgttgaaataaaaata c.*3840
. . . . . . g.18686
aaatactctaaaaaatattccatgatgtgtttcctgaagaatcgggaactgtttgaagaa c.*3900
. . . . . . g.18746
atgacccaaagtgcagcacagaaagacagagctggaaaatatgagatgggatgagacaag c.*3960
. . . . . . g.18806
aagatggagagtttagtatgacatccgcaatttacgagtaattccagaaggaggggaaag c.*4020
. . . . . . g.18866
agaatatggggtggaggcaagtattcagagaaatacggctgagaactttcccaaaccaac c.*4080
. . . . . . g.18926
aggagcccctgctccttaggttcaggaaccagcagctcccaagcagcatagttaaaaagc c.*4140
. . . . . . g.18986
tctacccaaacagtcacgtcttggtgaaagtacagaatctcatgacaaagagatcttaag c.*4200
. . . . . . g.19046
gcagaaaagaaagagattatctggaaagaagaaaataagtagttgattaaaagcaacagt c.*4260
. . . . . . g.19106
ggaagccagaaagatagtaaataatatcttcaaagtcctgggagaaaatagtgatagcct c.*4320
. . . . . . g.19166
agaattgtgtacccagaaaatccgtctttcaagaatgaggggccaggcgcagtggctcac c.*4380
. . . . . . g.19226
gtctgtattcccagcactttgggaggccaaggcaggtggatcacctgaggtcaggagttc c.*4440
. . . . . . g.19286
aagaccagcctgatcaacatggtgaaaccctgtctctactaaaaatataaaaattagctg c.*4500
. . . . . . g.19346
ggtgtggtggcatattcctgtaatcccagctactcgggaggctgaggcaggagaatcact c.*4560
. . . . . . g.19406
tgaacccaggaggcagaggttgcagtgagccaagattgtgccattgcactccagcctggg c.*4620
. . . . . . g.19466
caatagaatgagactctgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaagagggctaa c.*4680
. . . . . . g.19526
acgcattttcataccacgaaactgccctcactccggagtttgctgccagcagagcctaga c.*4740
. . . . . . g.19586
gcgtctaaggcatgtctgggcttctggcgagggatcctgtggggaagctggagatggaag c.*4800
. . . . . . g.19646
aaggagtgaataggcaggaaggtggatttgtgggcatgtctaaaacaccacatctagaag c.*4860
. . . . . . g.19706
cttctacttagaatgcctacttttggagtttataaaaaagatgccacatgttgagttggg c.*4920
. . . . . . g.19766
agagaggtgcccaaacctacagtgttctaaagtccccctactggtcggaaggagggcacg c.*4980
. . . . . . g.19826
gacactgacttcagcatctgttacaaggcttatcagagttttcagataatctctaaaaga c.*5040
. . . . . . g.19886
atggaaatatatcttccaaactatagagggaagaccatggaatttaaaagccagtccttc c.*5100
. . . . . . g.19946
aaggagaaatgaacaaactcaaaatcgtagttgggagtgttttttttttttttgagacag c.*5160
. . . . . . g.20006
agtctcactcttgcccaggctggagtggagtggcataaacacagctcactacagcctcaa c.*5220
. . . . . . g.20066
ccttctgggctcagatgattctcctgcctcagcctcctgagtagcaggaactacaggtgt c.*5280
. . . . . . g.20126
gagtcatcacactcagctaattttttttttttttttttactttttgtagagatggggttc c.*5340
. . . . . . g.20186
tcactgcattgcccaggctggtcttgaatttctgggctcaggtgatcttcccacctcagc c.*5400
. . . . . . g.20246
ctcctgagtagctgggaccacaggtgcatgctaatttttaaaattttttgtttttaaatg c.*5460
. . . . . . g.20306
ctggtcttcaactcttgtccccaagtagctgggattggggcatgaggcactgtgctaact c.*5520
. . . . . . g.20366
tcatgttgaaattgaattgccattctaacagtgttaagagatggggcctgtaagaggtga c.*5580
. . . . . . g.20426
ttaggctgtgagggctccactctccaagggcggagttaatgttatgaaagggtaagtcca c.*5640
. . . . . . g.20486
gcccgcttgtgcctctcttgccctccagtgttcaaagcaccatcttggaggtggaattcc c.*5700
. . . . . . g.20546
caagtcggccagttcctggatcttggactgtccggtctccagaaccgtgagccaataaac c.*5760
. . . . . . g.20606
ctctgttccttgtaaatgagtcagcctcaggtattctcttgtagcagcacaaatggaggc c.*5820
. . . . . . g.20666
agacacttccttcaccaatctcatgggaggcccactcctgtgagctgcctctagttcccc c.*5880
. . . . . . g.20726
aggccacagactccatcagggctcacctggagccgtccctgtctcacctggaagctctcc c.*5940
. . . . . . g.20786
cactcctctggccagcctgggcatctccacccaatatgagtgatggcgactgattccctt c.*6000
. . . . . . g.20846
actttagcaagctgggaataaggaatgtttgcctgttcttattcaggggtctctgcatct c.*6060
. . . . . . g.20906
ccacacttgcacaggttgtgtgtacatacattttcctgtctttctggtaagcccctgggg c.*6120
. . . . . . g.20966
tggagctctgggccacagggcaggaaaactcagtgttgctaggaactgccagacattttc c.*6180
. . . . . . g.21026
ccggagtgagtgcagcatttacattcccaccagaagtgtgccaggttcttgtcatactgc c.*6240
. . . . . . g.21086
gtcctcgccagcgcttggtgctgtcagtcttcttagtttccatttagagattcagtgttt c.*6300
. . . . . . g.21146
aaattttgaacgtcttgggtgaacaccttggtttgagaaaagtaagaaaaagggtctgtc c.*6360
. . . . . . g.21206
tggctatgggccatggagacccagggcagtgctccacgtgccaaccctggggcagggagc c.*6420
. . . . . . g.21266
ccaagctaggactgtgactgtctgggctgtgggcatctgaccatctccagtgtccccgtc c.*6480
. . . . . . g.21326
tttgatttccctggcgatggtgctagcttagtttgtgcgcatcggcatttgtgggagaaa c.*6540
. . . . . . g.21386
tgaaggattaatacattttgttttatgtcagactctctcagtgagaagttctcagggaca c.*6600
. . . . . . g.21446
ataatagcagggggtcctgctgaagaaaaactgggagatggctgagctctggtccatctt c.*6660
. . . . . . g.21506
tcattgattcattcatttcttcattcattcaaccatgtattgaatgcttatagccaatga c.*6720
. . g.21530
aaataaagtacacagtatatttta c.*6744
(downstream sequence)
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