(used for variant description)
(last modified June 24, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_021615.4 in the CHST6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016442.1, covering CHST6 transcript NM_021615.4.
(upstream sequence)
. . . . . . g.5060
gacgacgtttgggagcctttgctgagtccagggagagaggcgtcccccaccgtgccgctg c.-121
. . . | 02 . . g.18168
cagctcgggcagagccgccaagctttggg | gtgctgaggaacctctaatcatctcccatgg c.-61
. . . . . | 03 . g.20200
atttgtgatcagcgttgcagctctcccagcagccctggacagtg | gcccccagcagtcagc c.-1
. . . . . . g.20260
ATGTGGCTGCCGCGCGTCTCCAGCACAGCAGTGACCGCGCTCCTCCTGGCGCAGACCTTC c.60
M W L P R V S S T A V T A L L L A Q T F p.20
. . . . . . g.20320
CTCCTCCTCTTTCTGGTTTCCCGGCCAGGGCCCTCGTCCCCAGCAGGCGGCGAGGCGCGC c.120
L L L F L V S R P G P S S P A G G E A R p.40
. . . . . . g.20380
GTGCATGTGCTGGTGCTGTCCTCGTGGCGCTCGGGCTCGTCCTTCGTGGGCCAACTCTTC c.180
V H V L V L S S W R S G S S F V G Q L F p.60
. . . . . . g.20440
AACCAGCACCCCGACGTCTTCTACCTAATGGAGCCCGCGTGGCACGTGTGGACCACCCTG c.240
N Q H P D V F Y L M E P A W H V W T T L p.80
. . . . . . g.20500
TCGCAGGGCAGCGCCGCAACGCTGCACATGGCTGTGCGCGACCTGGTGCGCTCCGTCTTC c.300
S Q G S A A T L H M A V R D L V R S V F p.100
. . . . . . g.20560
CTGTGCGACATGGACGTGTTTGATGCCTATCTGCCTTGGCGCCGCAACCTGTCCGACCTC c.360
L C D M D V F D A Y L P W R R N L S D L p.120
. . . . . . g.20620
TTCCAGTGGGCCGTGAGCCGTGCACTGTGCTCGCCACCCGCCTGCAGTGCCTTTCCCCGA c.420
F Q W A V S R A L C S P P A C S A F P R p.140
. . . . . . g.20680
GGCGCCATCAGCAGCGAGGCCGTGTGCAAGCCACTGTGCGCGCGGCAGTCCTTCACCCTG c.480
G A I S S E A V C K P L C A R Q S F T L p.160
. . . . . . g.20740
GCCCGGGAGGCCTGCCGCTCCTACAGCCACGTGGTGCTCAAGGAGGTGCGCTTCTTCAAC c.540
A R E A C R S Y S H V V L K E V R F F N p.180
. . . . . . g.20800
CTGCAGGTGCTCTACCCGCTGCTCAGCGACCCCGCGCTCAACCTACGCATCGTGCACCTG c.600
L Q V L Y P L L S D P A L N L R I V H L p.200
. . . . . . g.20860
GTGCGCGACCCGCGGGCCGTGCTGCGCTCCCGGGAGCAGACAGCCAAGGCTCTGGCGCGT c.660
V R D P R A V L R S R E Q T A K A L A R p.220
. . . . . . g.20920
GACAACGGCATCGTGCTGGGCACCAACGGCACGTGGGTGGAGGCCGACCCCGGCCTGCGC c.720
D N G I V L G T N G T W V E A D P G L R p.240
. . . . . . g.20980
GTGGTGCGCGAGGTGTGCCGTAGCCACGTACGCATCGCCGAGGCCGCCACACTCAAGCCG c.780
V V R E V C R S H V R I A E A A T L K P p.260
. . . . . . g.21040
CCACCCTTTCTGCGCGGCCGCTACCGCCTGGTGCGCTTCGAGGACCTGGCGCGGGAGCCG c.840
P P F L R G R Y R L V R F E D L A R E P p.280
. . . . . . g.21100
CTGGCAGAAATCCGTGCGCTCTACGCCTTCACTGGGCTCAGTCTCACGCCACAGCTCGAG c.900
L A E I R A L Y A F T G L S L T P Q L E p.300
. . . . . . g.21160
GCCTGGATCCATAACATCACCCACGGATCTGGACCTGGTGCGCGCCGCGAAGCCTTCAAG c.960
A W I H N I T H G S G P G A R R E A F K p.320
. . . . . . g.21220
ACTTCGTCCAGGAATGCGCTCAACGTCTCCCAGGCCTGGCGCCATGCGCTGCCCTTTGCC c.1020
T S S R N A L N V S Q A W R H A L P F A p.340
. . . . . . g.21280
AAGATCCGCCGCGTGCAGGAACTGTGCGCTGGTGCGCTGCAGCTGCTGGGCTACCGGCCT c.1080
K I R R V Q E L C A G A L Q L L G Y R P p.360
. . . . . . g.21340
GTGTACTCTGAGGACGAGCAGCGCAACCTCGCCCTTGATCTGGTGCTGCCACGAGGCCTG c.1140
V Y S E D E Q R N L A L D L V L P R G L p.380
. . . . g.21388
AACGGCTTCACTTGGGCATCATCCACCGCCTCGCACCCCCGAAATTAG c.1188
N G F T W A S S T A S H P R N X p.395
. . . . . . g.21448
tggaggccacagttgtagcaggcgctaggcccgggaggagagtgcatggtgcagaggggg c.*60
. . . . . . g.21508
ctggggcgcacggagaagcaggtccctatattgaccaaggagtttgtggtacgacccctc c.*120
. . . . . . g.21568
cccctccccaagtaggcaaggactgcacgtttctttctctcttgattcttggttttcctt c.*180
. . . . . . g.21628
tgagtcctctggagctgccttctcatcaggtgcactcttcatggaaagcaactcttgccc c.*240
. . . . . . g.21688
ctcctcctctgggcacagggtgtgcgttcagatgacttggctcctactcaagggctttct c.*300
. . . . . . g.21748
tcccctttaactctctccttctggtgacacatcctgcagcagctgagggggtgccctggc c.*360
. . . . . . g.21808
actggctgggagtggagaggcactgtggtgaaatggctccagaggtctgtacatcacata c.*420
. . . . . . g.21868
catatgcacacaggcacacatggcaaaactcggaagtgaaaggacttgtctgaaatcaca c.*480
. . . . . . g.21928
tggtgagaaggaggatgaagggaggagagagcttttgctctgggtctccagtggatagga c.*540
. . . . . . g.21988
gaggacctgcctcctgggtgagaagggtcagattttcctattttaattgctttagggaag c.*600
. . . . . . g.22048
agcaagcagagtcatgaccagggacacagctgagagatagaggaggctgtgaatgctgag c.*660
. . . . . . g.22108
accagagtttatcatgctggacaagcctggaaggaggcaataagtgggaaaggtaggagg c.*720
. . . . . . g.22168
agagaaggctggggagggctgggcagcaagccaggcacagtgagtggcagagcaagaggg c.*780
. . . . . . g.22228
ggaaagcaggatcagtgcctggaaggcaggtgtgcccgtcagcggggagtggaactcatc c.*840
. . . . . . g.22288
aggcttgccaagaggttggaagggaaatggctctgggctggaactgtcttcccttggtcc c.*900
. . . . . . g.22348
ttctggtccaggccttggaggaaagcagaggatgatccctgcctgtgagccacacctcct c.*960
. . . . . . g.22408
agctctgggggcaaaggggcttagtaaaggaatgctggatgtgtagagggtttagtcccg c.*1020
. . . . . . g.22468
agctcaggaaatgagagcctataagtgcccagtacatgtttaaaagaagagctcatggaa c.*1080
. . . . . . g.22528
cctctggaaaggacagggaagttgagttagccacataaatgaacccaagtcacattggaa c.*1140
. . . . . . g.22588
cacagagctggtctgggaactgtgttggctgccaacagaacttctgaccctgttacctgt c.*1200
. . . . . . g.22648
gaaatgaggcagtttccctcacgttgccatcagctaccaggagcgatgctggtggtcact c.*1260
. . . . . . g.22708
agcttctgatcctcatcctgggtgtggccacagattgggggaacctggattgtggagtca c.*1320
. . . . . . g.22768
catcctccctgcaaagcaagcagggcaagggagatctggcattttctgctttacgtggag c.*1380
. . . . . . g.22828
ggagaacaggcacattagccttgaagctgaagctcattttaggttccttccaggtttaga c.*1440
. . . . . . g.22888
agcttcaaccaaatgaaacttgaatctgtccctcgtgacaattataggaggaaggtattt c.*1500
. . . . . . g.22948
aaaaccccagatttatgaatgtgtactacatggcttagagaatgtctttgttcttgttca c.*1560
. . . . . . g.23008
ggtggttataacaaaataccttaagagtgggtaacttggctggatgcagtggctcatgcc c.*1620
. . . . . . g.23068
tgtaatcccagcactgtgggaggccgagggggatgaatcacctgaggtcaggcattcaag c.*1680
. . . . . . g.23128
aacagcctggccaacatggcgaagcccctcctctactaaaaatacaaaattagcgaggca c.*1740
. . . . . . g.23188
tggtcgcacatacctgtaatcccagctcctcgggaagctgaggcaggagaatcgcttgaa c.*1800
. . . . . . g.23248
cccaggaggcggaggttgcagtgagccaagatcacgccattgcactccagcctgggtgac c.*1860
. . . . . . g.23308
agagcaagactccatctcaaaaaaaaaaaaaagactgggtaacttataaacaaatgttct c.*1920
. . . . . . g.23368
tctcacaagtctggagactgggaagtccaagatcaagccaccagtgctgtctgatgaggg c.*1980
. . . . . . g.23428
cccactttttcaaagacagtgccttctagctgtgtcctcttatcgtagaagatgggagac c.*2040
. . . . . . g.23488
agctctccagggccatttttttttttttttttttttttttgagatggagtctggctctgt c.*2100
. . . . . . g.23548
cgcccaggctggagtgcagtggcacaatctcggctcactgcaacctctgcctctctctgc c.*2160
. . . . . . g.23608
ctcctgagttcaagcaattctcctgcctcagcctcctgaggagctgggactacagggatg c.*2220
. . . . . . g.23668
caccaccatgcccagctaatttttgtatttttgtagacactgggtttcaccatattggcc c.*2280
. . . . . . g.23728
aggttggtctcaaactcctgacctcaagtgatctgcccacctcagcctcccaaagtgctg c.*2340
. . . . . . g.23788
agattacaggcatgagccactgtacccagtctccagggccttttaaagaatgtcactaat c.*2400
. . . . . . g.23848
cccattcttgaggtctccaccttcattatctaatcacctcccaaaggctccacatcccaa c.*2460
. . . . . . g.23908
caccatcatattgtgggttaagatttcaaccacaagccaggcgtggtggctcatgcctgt c.*2520
. . . . . . g.23968
aatcccagcattttggaaggctgaggcaggtggatcacttgaggtcaggagtttgagacc c.*2580
. . . . . . g.24028
agcctggccaacatggtgaaaccccatctctactaaaaataaaaaaaattagccgggtgt c.*2640
. . . . . . g.24088
ggtggtgcacacctgtaattccagctactcaggaggctgaggcaggagaatcccttgaat c.*2700
. . . . . . g.24148
ccaggaggcggacagtgcagtgagccgagataatgccactgcactccagcctggatgaca c.*2760
. . . . . . g.24208
gagcaagactccatctcatgcccagccagcatgcccaacaagcttcatttgcccctgttt c.*2820
. . . . . . g.24268
aggtcacaaattttattgatggctgcaattaatggcctcttggtatccaagtcctttgtt c.*2880
. . . . . . g.24328
gtatgacccatccattctcccctgactcccaaggtgtcaggacatgcttgactggctcct c.*2940
. . . . . . g.24388
gaatttgctctctgcgcatgggcagtacagtcaagcctcacagtgaacccaggtcagctt c.*3000
. . . . . . g.24448
tcaggacaaagaaagtggcctggctgactaggcacagtaaagccagggctgggtaggtac c.*3060
. . . . . . g.24508
atacttgtgctgatcacgtatgtcttatatctctgtgagagtgcagtcccaacaggaagg c.*3120
. . . . . . g.24568
tttaatcactggggactgcccaatgctgtgacagggcacagagctctgggttgctgtggg c.*3180
. . . . . . g.24628
ggtgactgcattgaccactgttagtggtttgctgtgttgacactctgtgctgtgtgacca c.*3240
. . . . . . g.24688
tggctcctgccatcaagaagtagagtctgtttctccacctctgaatccaggctggtcctg c.*3300
. . . . . . g.24748
tgacttgctttgtcctgtagacaagtgtagtgcaacttcctgtgagccagtttgaagcat c.*3360
. . . . . . g.24808
aggccttggaagcaaaactttacctccacctgtcttaggttttcagctggggctctgctg c.*3420
. . . . . . g.24868
tgatttgattgtgtctcccaaagttggaaccttgatccccagtgttgtgaggtgaggctt c.*3480
. . . . . . g.24928
gatggaaagtaaattacgccgtgcgggttatgcccttgtgaatgggtagagaacattatt c.*3540
. . . . . . g.24988
tctgggcgcaggcatggtagctcatgtctgtaatcccagcattttgggaggttgaggtgt c.*3600
. . . . . . g.25048
gcggattacttgaggtcaggagtttgagaccagcctggccaacaaggtaaaacaccattt c.*3660
. . . . . . g.25108
ctagttaaaatacaaaaattagccaggtgtggtggcacatgcctgtaaggccagctactt c.*3720
. . . . . . g.25168
gggaggctgagacaggagaatcgcttgaacccaggaggcagagattgcagtgagctgaga c.*3780
. . . . . . g.25228
tcgcaccactgtactccagcctgggcaacaaagcgagagtctgtcttaaaaaaaaccacc c.*3840
. . . . . . g.25288
attatttcaggagtgagttggttatcctgagagtggtgccttttaaatgaaggagttcat c.*3900
. . . . . . g.25348
tctttgtctttctctcgccctcactttgcccttctgccatatgatgccttccatcatgct c.*3960
. . . . . . g.25408
aggacacagcaagaaggctctcgctagatgctggctccttgatcttgggcttcccagcct c.*4020
. . . . . . g.25468
ccagaactgtaagccaatacacttctatttattatatatgacccttgctgggttcagtgg c.*4080
. . . . . . g.25528
ctcacgcctgtaatcccaatactttgcaaggctgaggcaggaggatcacttgagaccagg c.*4140
. . . . . . g.25588
cactcaagaccagcctgggcaacatagtgagaccccatctctacaaagttaaaaaaaaat c.*4200
. . . . . . g.25648
tagcagggcatggtgtcgtgcacctgtagtcctagctacttgggaggctgagttgggagg c.*4260
. . . . . . g.25708
actgcttgaccctgggaggttgaggctacattgaaccatgatcatgccagtgcactccag c.*4320
. . . . . . g.25768
cctgagtgacagagcaagacacctatctctaaataaatgaccccatctgtggtattgtta c.*4380
. . . . . . g.25828
tagcaaaacaaaacagattaagagagactttttaatgaaaagacagattcacaaagaaaa c.*4440
. . . . . . g.25888
acaatgtttttgtttctgtttttttgaggcagagtcttgctcttgtcccccaggctggag c.*4500
. . . . . . g.25948
tgcagtggcgccatcttggctcactgcaacctccgcctcccagtttcaagcgattctcct c.*4560
. . . . . . g.26008
gcctcagcctcccgagtagctgggattacagatgtacaccaccacgcccggctaattttt c.*4620
. . . . . . g.26068
tttgtatttttagtagagatggggtttcaccatgtcgatcaggctgggctggaactcctg c.*4680
. . . . . . g.26128
acctcaggtgatccacctgccttggcctcccaatgtgctaggattacaggcatgagccac c.*4740
. . . . . . g.26188
tgtacctggcgaaaaacagtttgttaacacaggcagccaacatcactcaggataagcctc c.*4800
. . . . . . g.26248
aatgaaaagtaacaaagtgatggcttggaacactgtcttacacagcatttttaaaaaata c.*4860
. . . . . . g.26308
caataaatttgtagagataggatgaccaaggacaacagttttaggcttccaaaggtggta c.*4920
. . . . . . g.26368
aactatgggatggtaaatatccgagaggaagctgatgcaacaggatttgtctgcagcagc c.*4980
. . . . . . g.26428
ctctggtaccacctctgagtcaagggttgtgtccagtgatggagagtttatatcgtgcct c.*5040
. . . . . . g.26488
ttaggcagaaaaggggagggaaacctgaacttttcctgcactttctgcttcttaattgcc c.*5100
. . . . . . g.26548
ttcagctgaaaatcattttttatgtgaaaaaggcatagtctgagctgacgcctctgcttt c.*5160
. . . . . . g.26608
cctccacctgaagagaacctgcgtgctgctcctttgcttcggacctccgcctctgcccgg c.*5220
. . . . . . g.26668
gagaaagcccaggccagcctgctggacaagcagagaccatgagaaggagagttcaggggt c.*5280
. . . . . . g.26728
cccaaaccaggccatcctagaccagccagctccagctgatccgcacgcagccacttcggc c.*5340
. . . . . . g.26788
taccttctactggccaaagggagtcccagggctcacccagattcagaggtggggaaactg c.*5400
. . . . . . g.26848
agtccaccacttgagaagagtagctataaagacatatgagcgaggccagctgagcccagc c.*5460
. . . . . g.26905
actgcggccaagtcgaagactttaggagcaataaaagtgcttattgtgtttcagtca c.*5517
(downstream sequence)
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