(used for variant description)
(last modified April 10, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000655.4 in the SELL gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016132.1, covering SELL transcript NM_000655.4.
(upstream sequence)
. . . . g.5045
aggaggaaggggagggaaaaggggaggaggaggaggatgtgagac c.-121
. . . . . . g.5105
tgggttagagaaatgaaagaaagcaaggctttctgttgacattcagtgcagtctacctgc c.-61
. . . . . . g.5165
agcacagcacactccctttgggcaaggacctgagacccttgtgctaagtcaagaggctca c.-1
. . . . | 02 . . g.6203
ATGGGCTGCAGAAGAACTAGAGAAGGACCAAGCAAAGCCATG | ATATTTCCATGGAAATGT c.60
M G C R R T R E G P S K A M | I F P W K C p.20
. . . . . . g.6263
CAGAGCACCCAGAGGGACTTATGGAACATCTTCAAGTTGTGGGGGTGGACAATGCTCTGT c.120
Q S T Q R D L W N I F K L W G W T M L C p.40
| 03 . . . . . . g.7955
TGTG | ATTTCCTGGCACATCATGGAACCGACTGCTGGACTTACCATTATTCTGAAAAACCC c.180
C D | F L A H H G T D C W T Y H Y S E K P p.60
. . . . . . g.8015
ATGAACTGGCAAAGGGCTAGAAGATTCTGCCGAGACAATTACACAGATTTAGTTGCCATA c.240
M N W Q R A R R F C R D N Y T D L V A I p.80
. . . . . . g.8075
CAAAACAAGGCGGAAATTGAGTATCTGGAGAAGACTCTGCCTTTCAGTCGTTCTTACTAC c.300
Q N K A E I E Y L E K T L P F S R S Y Y p.100
. . . . . . g.8135
TGGATAGGAATCCGGAAGATAGGAGGAATATGGACGTGGGTGGGAACCAACAAATCTCTT c.360
W I G I R K I G G I W T W V G T N K S L p.120
. . . . . . g.8195
ACTGAAGAAGCAGAGAACTGGGGAGATGGTGAGCCCAACAACAAGAAGAACAAGGAGGAC c.420
T E E A E N W G D G E P N N K K N K E D p.140
. . . . . . g.8255
TGCGTGGAGATCTATATCAAGAGAAACAAAGATGCAGGCAAATGGAACGATGACGCCTGC c.480
C V E I Y I K R N K D A G K W N D D A C p.160
. . . | 04 . . . g.9282
CACAAACTAAAGGCAGCCCTCTGTTACACAG | CTTCTTGCCAGCCCTGGTCATGCAGTGGC c.540
H K L K A A L C Y T A | S C Q P W S C S G p.180
. . . . . . g.9342
CATGGAGAATGTGTAGAAATCATCAATAATTACACCTGCAACTGTGATGTGGGGTACTAT c.600
H G E C V E I I N N Y T C N C D V G Y Y p.200
. | 05 . . . . g.11990
GGGCCCCAGTGTCAGTTTG | TGATTCAGTGTGAGCCTTTGGAGGCCCCAGAGCTGGGTACC c.660
G P Q C Q F V | I Q C E P L E A P E L G T p.220
. . . . . . g.12050
ATGGACTGTACTCACCCTTTGGGAAACTTCAGCTTCAGCTCACAGTGTGCCTTCAGCTGC c.720
M D C T H P L G N F S F S S Q C A F S C p.240
. . . . . . g.12110
TCTGAAGGAACAAACTTAACTGGGATTGAAGAAACCACCTGTGGACCATTTGGAAACTGG c.780
S E G T N L T G I E E T T C G P F G N W p.260
. . | 06 . . . . g.13297
TCATCTCCAGAACCAACCTGTCAAG | TGATTCAGTGTGAGCCTCTATCAGCACCAGATTTG c.840
S S P E P T C Q V | I Q C E P L S A P D L p.280
. . . . . . g.13357
GGGATCATGAACTGTAGCCATCCCCTGGCCAGCTTCAGCTTTACCTCTGCATGTACCTTC c.900
G I M N C S H P L A S F S F T S A C T F p.300
. . . . . . g.13417
ATCTGCTCAGAAGGAACTGAGTTAATTGGGAAGAAGAAAACCATTTGTGAATCATCTGGA c.960
I C S E G T E L I G K K K T I C E S S G p.320
. . . | 07 . . . g.15043
ATCTGGTCAAATCCTAGTCCAATATGTCAAA | AATTGGACAAAAGTTTCTCAATGATTAAG c.1020
I W S N P S P I C Q K | L D K S F S M I K p.340
. . . . . . g.15103
GAGGGTGATTATAACCCCCTCTTCATTCCAGTGGCAGTCATGGTTACTGCATTCTCTGGG c.1080
E G D Y N P L F I P V A V M V T A F S G p.360
. . . . | 08 . | 09 g.24901
TTGGCATTTATCATTTGGCTGGCAAGGAGATTAAAAAAAG | GCAAGAAATCCAAGAGAAG | T c.1140
L A F I I W L A R R L K K G | K K S K R S | p.380
. g.24919
ATGAATGACCCATATTAA c.1158
M N D P Y X p.385
. . . . . . g.24979
atcgcccttggtgaaagaaaattcttggaatactaaaaatcatgagatcctttaaatcct c.*60
. . . . . . g.25039
tccatgaaacgttttgtgtggtggcacctcctacgtcaaacatgaagtgtgtttccttca c.*120
. . . . . . g.25099
gtgcatctgggaagatttctacctgaccaacagttccttcagcttccatttcgcccctca c.*180
. . . . . . g.25159
tttatccctcaacccccagcccacaggtgtttatacagctcagctttttgtcttttctga c.*240
. . . . . . g.25219
ggagaaacaaataagaccataaagggaaaggattcatgtggaatataaagatggctgact c.*300
. . . . . . g.25279
ttgctctttcttgactcttgttttcagtttcaattcagtgctgtacttgatgacagacac c.*360
. . . . . . g.25339
ttctaaatgaagtgcaaatttgatacatatgtgaatatggactcagttttcttgcagatc c.*420
. . . . . . g.25399
aaatttcacgtcgtcttctgtatactgtggaggtacactcttatagaaagttcaaaaagt c.*480
. . . . . . g.25459
ctacgctctcctttctttctaactccagtgaagtaatggggtcctgctcaagttgaaaga c.*540
. . . . . . g.25519
gtcctatttgcactgtagcctcgccgtctgtgaattggaccatcctatttaactggcttc c.*600
. . . . . . g.25579
agcctccccaccttcttcagccacctctctttttcagttggctgacttccacacctagca c.*660
. . . . . . g.25639
tctcatgagtgccaagcaaaaggagagaagagagaaatagcctgcgctgttttttagttt c.*720
. . . . . . g.25699
gggggttttgctgtttccttttatgagacccattcctatttcttatagtcaatgtttctt c.*780
. . . . . . g.25759
ttatcacgatattattagtaagaaaacatcactgaaatgctagctgcaagtgacatctct c.*840
. . . . . . g.25819
ttgatgtcatatggaagagttaaaacaggtggagaaattccttgattcacaatgaaatgc c.*900
. . . . . . g.25879
tctcctttcccctgcccccagaccttttatccacttacctagattctacatattctttaa c.*960
. . . . . . g.25939
atttcatctcaggcctccctcaaccccaccacttcttttataactagtcctttactaatc c.*1020
. . . . . . g.25999
caacccatgatgagctcctcttcctggcttcttactgaaaggttaccctgtaacatgcaa c.*1080
. . . g.26038
ttttgcatttgaataaagcctgctttttaagtgttaact c.*1119
(downstream sequence)
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