(used for variant description)
(last modified June 13, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000202.5 in the IDS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011900.3, covering IDS transcript NM_000202.5.
(upstream sequence)
. . . g.5037
agaacccgccccggaggggagggacgcagggaagagt c.-181
. . . . . . g.5097
cgcacggacgcactcgcgctgcggccagcgcccgggcctgcgggcccgggcggcggctgt c.-121
. . . . . . g.5157
gttgcgcagtcttcatgggttcccgacgaggaggtctctgtggctgcggcggcggctgct c.-61
. . . . . . g.5217
aactgcgccacctgctgcagcctgtccccgccgctctgaagcggccgcgtcgaagccgaa c.-1
. . . . . . g.5277
ATGCCGCCACCCCGGACCGGCCGAGGCCTTCTCTGGCTGGGTCTGGTTCTGAGCTCCGTC c.60
M P P P R T G R G L L W L G L V L S S V p.20
. . . . | 02 . . g.6078
TGCGTCGCCCTCGGATCCGAAACGCAGGCCAACTCGACCACAG | ATGCTCTGAACGTTCTT c.120
C V A L G S E T Q A N S T T D | A L N V L p.40
. . . . . . g.6138
CTCATCATCGTGGATGACCTGCGCCCCTCCCTGGGCTGTTATGGGGATAAGCTGGTGAGG c.180
L I I V D D L R P S L G C Y G D K L V R p.60
. . . . . . g.6198
TCCCCAAATATTGACCAACTGGCATCCCACAGCCTCCTCTTCCAGAATGCCTTTGCGCAG c.240
S P N I D Q L A S H S L L F Q N A F A Q p.80
| 03 . . . . . . g.6925
| CAAGCAGTGTGCGCCCCGAGCCGCGTTTCTTTCCTCACTGGCAGGAGACCTGACACCACC c.300
| Q A V C A P S R V S F L T G R R P D T T p.100
. . . . . . g.6985
CGCCTGTACGACTTCAACTCCTACTGGAGGGTGCACGCTGGAAACTTCTCCACCATCCCC c.360
R L Y D F N S Y W R V H A G N F S T I P p.120
. . . . . | 04 g.9318
CAGTACTTCAAGGAGAATGGCTATGTGACCATGTCGGTGGGAAAAGTCTTTCACCCTG | GG c.420
Q Y F K E N G Y V T M S V G K V F H P G | p.140
. . . . . . g.9378
ATATCTTCTAACCATACCGATGATTCTCCGTATAGCTGGTCTTTTCCACCTTATCATCCT c.480
I S S N H T D D S P Y S W S F P P Y H P p.160
. . | 05. . . . g.12079
TCCTCTGAGAAGTATGAAAACACTAAG | ACATGTCGAGGGCCAGATGGAGAACTCCATGCC c.540
S S E K Y E N T K | T C R G P D G E L H A p.180
. . . . . . g.12139
AACCTGCTTTGCCCTGTGGATGTGCTGGATGTTCCCGAGGGCACCTTGCCTGACAAACAG c.600
N L L C P V D V L D V P E G T L P D K Q p.200
. . . . . . g.12199
AGCACTGAGCAAGCCATACAGTTGTTGGAAAAGATGAAAACGTCAGCCAGTCCTTTCTTC c.660
S T E Q A I Q L L E K M K T S A S P F F p.220
. . . . | 06 . g.13849
CTGGCCGTTGGGTATCATAAGCCACACATCCCCTTCAGATACCCCAAG | GAATTTCAGAAG c.720
L A V G Y H K P H I P F R Y P K | E F Q K p.240
. . . . . . g.13909
TTGTATCCCTTGGAGAACATCACCCTGGCCCCCGATCCCGAGGTCCCTGATGGCCTACCC c.780
L Y P L E N I T L A P D P E V P D G L P p.260
. . . . . . g.13969
CCTGTGGCCTACAACCCCTGGATGGACATCAGGCAACGGGAAGACGTCCAAGCCTTAAAC c.840
P V A Y N P W M D I R Q R E D V Q A L N p.280
. . . | 07 . . g.19934
ATCAGTGTGCCGTATGGTCCAATTCCTGTGGACTTTCAG | CGGAAAATCCGCCAGAGCTAC c.900
I S V P Y G P I P V D F Q | R K I R Q S Y p.300
. . . . . . g.19994
TTTGCCTCTGTGTCATATTTGGATACACAGGTCGGCCGCCTCTTGAGTGCTTTGGACGAT c.960
F A S V S Y L D T Q V G R L L S A L D D p.320
. . . . | 08 . . g.23269
CTTCAGCTGGCCAACAGCACCATCATTGCATTTACCTCGGATCATG | GGTGGGCTCTAGGT c.1020
L Q L A N S T I I A F T S D H G | W A L G p.340
. . . . . . g.23329
GAACATGGAGAATGGGCCAAATACAGCAATTTTGATGTTGCTACCCATGTTCCCCTGATA c.1080
E H G E W A K Y S N F D V A T H V P L I p.360
. . . . . . g.23389
TTCTATGTTCCTGGAAGGACGGCTTCACTTCCGGAGGCAGGCGAGAAGCTTTTCCCTTAC c.1140
F Y V P G R T A S L P E A G E K L F P Y p.380
. . . . | 09 . . g.27155
CTCGACCCTTTTGATTCCGCCTCACAGTTGATGGAGCCAG | GCAGGCAATCCATGGACCTT c.1200
L D P F D S A S Q L M E P G | R Q S M D L p.400
. . . . . . g.27215
GTGGAACTTGTGTCTCTTTTTCCCACGCTGGCTGGACTTGCAGGACTGCAGGTTCCACCT c.1260
V E L V S L F P T L A G L A G L Q V P P p.420
. . . . . . g.27275
CGCTGCCCCGTTCCTTCATTTCACGTTGAGCTGTGCAGAGAAGGCAAGAACCTTCTGAAG c.1320
R C P V P S F H V E L C R E G K N L L K p.440
. . . . . . g.27335
CATTTTCGATTCCGTGACTTGGAAGAGGATCCGTACCTCCCTGGTAATCCCCGTGAACTG c.1380
H F R F R D L E E D P Y L P G N P R E L p.460
. . . . . . g.27395
ATTGCCTATAGCCAGTATCCCCGGCCTTCAGACATCCCTCAGTGGAATTCTGACAAGCCG c.1440
I A Y S Q Y P R P S D I P Q W N S D K P p.480
. . . . . . g.27455
AGTTTAAAAGATATAAAGATCATGGGCTATTCCATACGCACCATAGACTATAGGTATACT c.1500
S L K D I K I M G Y S I R T I D Y R Y T p.500
. . . . . . g.27515
GTGTGGGTTGGCTTCAATCCTGATGAATTTCTAGCTAACTTTTCTGACATCCATGCAGGG c.1560
V W V G F N P D E F L A N F S D I H A G p.520
. . . . . . g.27575
GAACTGTATTTTGTGGATTCTGACCCATTGCAGGATCACAATATGTATAATGATTCCCAA c.1620
E L Y F V D S D P L Q D H N M Y N D S Q p.540
. . . g.27608
GGTGGAGATCTTTTCCAGTTGTTGATGCCTTGA c.1653
G G D L F Q L L M P X p.550
. . . . . . g.27668
gttttgccaaccatggatggcaaatgtgatgtgctcccttccagctggtgagaggaggag c.*60
. . . . . . g.27728
ttagagctggtcgttttgtgattacccataatattggaagcagcctgagggctagttaat c.*120
. . . . . . g.27788
ccaaacatgcatcaacaatttggcctgagaatatgtaacagccaaaccttttcgtttagt c.*180
. . . . . . g.27848
ctttattaaaatttataattggtaattggaccagttttttttttaatttccctcttttta c.*240
. . . . . . g.27908
aaacagttacggcttatttactgaataaatacaaagcaaacaaactcaagttatgtcata c.*300
. . . . . . g.27968
cctttggatacgaagaccatacataataaccaaacataacattatacacaaagaatactt c.*360
. . . . . . g.28028
tcattatttgtggaatttagtgcatttcaaaaagtaatcatatatcaaactaggcaccac c.*420
. . . . . . g.28088
actaagttcctgattattttgtttataatttaataatatatcttatgagccctatatatt c.*480
. . . . . . g.28148
caaaatattatgttaacatgtaatccatgtttctttttcaaatctaaagttaaaaaaaaa c.*540
. . . . . . g.28208
tagcagaagccagtgtcttaaagtctatcttttgtttctaagaccatgggatttcataat c.*600
. . . . . . g.28268
ctcaagataaaatatgtatgaagtaattaatgtagaatttttacaccaaataataaataa c.*660
. . . . . . g.28328
tgcttaataaactagagatatgagatgtgtaggaaatttggttaaacttttttcagatac c.*720
. . . . . . g.28388
tttctggcccaaataataatttgttagcaaataatatgacccttgaactcaatggccatc c.*780
. . . . . . g.28448
tattaaaagactgttgttcacactggaaaacatttaaagatgtgactatatccatgggtg c.*840
. . . . . . g.28508
gattgaatcactcaaaatatattagtatccttctttagggatggttggttacagacatgt c.*900
. . . . . . g.28568
atttattcaggaggcagaaaatattccattttaattgcttattaaagaaaacattaaatt c.*960
. . . . . . g.28628
ctaaattattttgaggactgtgaagacttttcattagtgtaatattaggtcattgtcaat c.*1020
. . . . . . g.28688
ctcccagaatgtagttctatattctctaaatatgaaagtatccagaaaggccagtggtag c.*1080
. . . . . . g.28748
taaaaagcttagtgtatataatctcaaaagggatggaatatttacagctcatatttataa c.*1140
. . . . . . g.28808
catgttgaatcttctcagttatcagtagtcatcagaagtgtcaatagctttctaaataaa c.*1200
. . . . . . g.28868
tattaaatatctactgtcctgtagtgaaggagtaatttttagtaattttctctttacaaa c.*1260
. . . . . . g.28928
gtctccagtgtttccaggtaaatatttgtgaaacaaaatacagcaaactacattgttact c.*1320
. . . . . . g.28988
tcagtgtattgttgccaaaaatgacaagatattatattaaaatcagtaaattttagacag c.*1380
. . . . . . g.29048
attttaaaaattaattagcctacaatagaggttatatggtaacacggtgatcttctaagc c.*1440
. . . . . . g.29108
agttaagtgactgactgttctggcaacaacgacttctccgtgactgaagggccctgttca c.*1500
. . . . . . g.29168
tttcctgatcctgaagctcgtctctcttttgagcctccgcttgctttggtcgatggtttc c.*1560
. . . . . . g.29228
cctcagctttttctttgctgttcttcatcctcgttgttgctgtcatcatgttcactgtgg c.*1620
. . . . . . g.29288
cttttacaatacagcctgtaaattccttatgacatagttcagtgcatttggctttatcgc c.*1680
. . . . . . g.29348
ctgctccacagttctttacctttacttggcttagagaaactgtatctttgttgcttcata c.*1740
. . . . . . g.29408
taacctttccccaaccccactaagctggacataacttattagtggtcctcccgtcacttt c.*1800
. . . . . . g.29468
atttgtagaaatctctctttcacatgagcaggggttctttcatgtggtttagctgacagc c.*1860
. . . . . . g.29528
agaactagtgattctagacattttgcatggccctcattcagtggctcacaaacatgaggg c.*1920
. . . . . . g.29588
agcatcagaactacttgaggggcttgttaaaacccagtgcgttagaagtcggatgcggtg c.*1980
. . . . . . g.29648
gctcacacctgtaatcccagcactttgggaggcccaggcaggcggatcacttgaggttag c.*2040
. . . . . . g.29708
gagttcaagaccagcctggccaacatggtgaaaccccgtctctactaaaaatacaaaagt c.*2100
. . . . . . g.29768
tagccgggtgtggtggtgcatgcctgtaatcccagcttcttgggaggccaaggcacaaga c.*2160
. . . . . . g.29828
atcgcttgaaccaggagacggaggtttcagtgaatgaagatcgtgccattgtattccagc c.*2220
. . . . . . g.29888
ctcggcaacacagcaggactgtgattttctttggagactcctagattttctgtggttttg c.*2280
. . . . . . g.29948
aactgaatttgttggatgttggcaagtgcctcttatgagctgtttctttatcctgcattt c.*2340
. . . . . . g.30008
gccccacaaagacttatctggaggtgagcaaagtatgtttggtagtgaggtcacaaaggc c.*2400
. . . . . . g.30068
aatcagccccttcctccccactcccattgccatcttctcagtccttctccctttctttcc c.*2460
. . . . . . g.30128
aagtagtttacccacccctcctctttcctcccctgtccctaaaataatccacgtgtcttc c.*2520
. . . . . . g.30188
ctaaaatctctctttgatcctgtcctttgataacaccgtcagtgcctactactgggtcta c.*2580
. . . . . . g.30248
gacagacctctgttgagcagtcagagtcttccctgactccacaatgcccctttccttggc c.*2640
. . . . . . g.30308
tgaccagtatgactactggtccccacctttcccttgcctatccctacctccctcctacta c.*2700
. . . . . . g.30368
ggttgtcccatccctctcttcacccattcattcatgaccatttttcactaccaagctccc c.*2760
. . . . . . g.30428
cccctcccgaaggaggctgaggtttttgtgactctctagactctattgtgggatggaatg c.*2820
. . . . . . g.30488
aacattgctaaagaatcttgtgttcgctttactttaaaaaggtatttttttcctaattat c.*2880
. . . . . . g.30548
aaaactgatgtgtcagttacggaaaaattagaaatgcagcacaaatacatgaatatttta c.*2940
. . . . . . g.30608
ccacgaaattgccatataatatcttgtcttttttgggggtgtgaattttttgcattgttc c.*3000
. . . . . . g.30668
tgatcatattctttatcatgtaatttatgttcttttttactaagtattatgtgtggttat c.*3060
. . . . . . g.30728
tatagattttcacaaagatatattgctggtaatatattttattgtgtagtcttataattt c.*3120
. . . . . . g.30788
acttaaccttctttcaattgttagaaatttaggctatttccagattttcagtattgtaaa c.*3180
. . . . . . g.30848
taatgctgtgatgaccaattttgtgaataaaatgtttttatgtatttcagattattccct c.*3240
. . . . . . g.30908
taggatagtctctcagtgccaagttgtcaaaaacatctctattttgcttatcttcctgct c.*3300
. . . . . . g.30968
ctcttgctgccttagggggtagtaaactgaaacataaagtaaacatgcatacaaataaaa c.*3360
. . . . . . g.31028
aacataaaacaaaaataagcaacctgatggtaataggtgaaagtggtaacctgttttaac c.*3420
. . . . . . g.31088
tttgaattcttgccgggcgcggtggctcacgcctgtaatcccagcactttgggaggctga c.*3480
. . . . . . g.31148
ggcgggtggatcacgaggtcaggagttcaaaaccagcctggccaagatggtgaaatcccg c.*3540
. . . . . . g.31208
tctctactaaaaatacaaaaattagccgggcgtggtggcgggcgcctgtaatcccagcta c.*3600
. . . . . . g.31268
cttgggaggctgaggcagagaattgcttgaacccaggaggcggaggttgcagtgagccaa c.*3660
. . . . . . g.31328
gatcgcgccactgcactccagcctgggtgacagagcgagactccgtctcaaataaaaaac c.*3720
. . . . . . g.31388
aacaaaaaacaaaaaaaacttaaaattctttgcttgttagtgaccttgatcatggttctc c.*3780
. . . . . . g.31448
tttgtacgatagttgggcatctgtatttccacttgtgtgaatttgcctttaaattttggt c.*3840
. . . . . . g.31508
tatgggtttcaccttttaaaataatcaaacatatttatcttttcctgtgtgataggtttt c.*3900
. . . . . . g.31568
tttctgtatcttttcctgttaaacacacagacccctccccaatctggacattgaataaat c.*3960
. . g.31590
attcattttcctttgcattgtt c.*3982
(downstream sequence)
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