(used for variant description)
(last modified October 23, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_001004127.2 in the ALG11 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_028038.1, covering ALG11 transcript NM_001004127.2.
(upstream sequence)
. . . g.5032
aagcgtttcctgagttcgggggtcggcggaag c.-1
. . . . | 02 . . g.11542
ATGGCGGCCGGCGAAAGGAGCTGGTGCCTGTGCAAGTTGTTGAG | GTTTTTTTATTCATTA c.60
M A A G E R S W C L C K L L R | F F Y S L p.20
. . . . . . g.11602
TTCTTCCCTGGGCTCATTGTATGTGGAACTTTATGTGTGTGTTTGGTCATTGTCCTTTGG c.120
F F P G L I V C G T L C V C L V I V L W p.40
. . . . . . g.11662
GGAATCAGACTGCTGCTACAGAGAAAGAAAAAATTAGTGTCAACTAGCAAAAATGGGAAA c.180
G I R L L L Q R K K K L V S T S K N G K p.60
. . . . . . g.11722
AATCAAATGGTGATTGCATTTTTTCATCCATACTGCAATGCTGGTGGAGGAGGAGAAAGA c.240
N Q M V I A F F H P Y C N A G G G G E R p.80
. . . | 03 . . . g.16644
GTTTTATGGTGTGCTTTAAGAGCCCTGCAGAAAAA | GTATCCTGAAGCAGTTTATGTTGTT c.300
V L W C A L R A L Q K K | Y P E A V Y V V p.100
. . . . . . g.16704
TATACCGGCGATGTTAATGTCAACGGTCAACAGATACTAGAAGGTGCTTTCAGAAGATTT c.360
Y T G D V N V N G Q Q I L E G A F R R F p.120
. . . . . . g.16764
AACATCAGATTAATTCACCCAGTGCAGTTTGTTTTTTTAAGGAAACGCTATCTTGTGGAA c.420
N I R L I H P V Q F V F L R K R Y L V E p.140
. . . . . . g.16824
GATTCACTGTATCCTCACTTCACACTGCTGGGCCAAAGTCTAGGATCCATTTTTCTTGGC c.480
D S L Y P H F T L L G Q S L G S I F L G p.160
. . . . . . g.16884
TGGGAAGCTCTAATGCAGTGTGTTCCTGATGTTTACATTGATTCAATGGGATACGCTTTT c.540
W E A L M Q C V P D V Y I D S M G Y A F p.180
. . . . . . g.16944
ACGCTTCCTCTGTTTAAGTATATAGGGGGTTGCCAAGTTGGAAGCTATGTTCATTATCCT c.600
T L P L F K Y I G G C Q V G S Y V H Y P p.200
. . . . . . g.17004
ACTATCAGCACCGACATGCTCTCTGTAGTGAAGAATCAAAATATTGGATTTAATAATGCA c.660
T I S T D M L S V V K N Q N I G F N N A p.220
. . . . . . g.17064
GCCTTCATTACCAGGAATCCTTTTCTCAGCAAAGTAAAGCTCATCTACTACTATTTATTT c.720
A F I T R N P F L S K V K L I Y Y Y L F p.240
. . . . . . g.17124
GCTTTTATTTATGGACTTGTTGGTTCTTGCAGTGATGTAGTCATGGTCAATTCTTCTTGG c.780
A F I Y G L V G S C S D V V M V N S S W p.260
. . . . . . g.17184
ACACTAAACCATATTCTCTCACTATGGAAAGTTGGGAATTGCACTAACATTGTTTATCCA c.840
T L N H I L S L W K V G N C T N I V Y P p.280
. . . . . . g.17244
CCTTGTGATGTGCAGACATTTCTGGACATTCCCTTACATGAGAAAAAGATGACCCCAGGA c.900
P C D V Q T F L D I P L H E K K M T P G p.300
. . . . . . g.17304
CATTTGCTGGTTTCTGTTGGCCAGTTTAGGCCGGAAAAGAATCATCCATTGCAGATCAGA c.960
H L L V S V G Q F R P E K N H P L Q I R p.320
. . . . . . g.17364
GCCTTTGCTAAATTGCTGAATAAGAAGATGGTTGAGTCACCTCCTTCGCTTAAACTTGTC c.1020
A F A K L L N K K M V E S P P S L K L V p.340
. . . . . . g.17424
CTCATTGGAGGTTGTCGTAACAAAGATGATGAACTTAGGGTAAACCAACTGAGAAGGCTG c.1080
L I G G C R N K D D E L R V N Q L R R L p.360
. . . . . . g.17484
TCTGAGGATTTAGGAGTTCAAGAATATGTGGAATTTAAAATAAACATTCCATTTGATGAA c.1140
S E D L G V Q E Y V E F K I N I P F D E p.380
. . . . . . g.17544
TTAAAGAATTATTTGTCTGAAGCAACAATTGGTCTGCATACCATGTGGAACGAGCATTTT c.1200
L K N Y L S E A T I G L H T M W N E H F p.400
| 04. . . . . . g.20985
GGGATTG | GAGTTGTGGAGTGTATGGCAGCTGGCACAATTATCCTTGCACACAATTCGGGG c.1260
G I G | V V E C M A A G T I I L A H N S G p.420
. . . . . . g.21045
GGCCCAAAGCTTGACATTGTGGTTCCTCACGAAGGAGATATAACTGGCTTTCTGGCTGAG c.1320
G P K L D I V V P H E G D I T G F L A E p.440
. . . . . . g.21105
AGTGAAGAAGACTATGCTGAAACTATCGCTCACATTCTTTCCATGTCTGCAGAAAAGAGA c.1380
S E E D Y A E T I A H I L S M S A E K R p.460
. . . . . . g.21165
CTCCAAATCAGAAAAAGTGCTCGTGCATCTGTAAGCAGATTCTCTGATCAGGAATTTGAA c.1440
L Q I R K S A R A S V S R F S D Q E F E p.480
. . . g.21204
GTGACATTCCTATCATCTGTGGAAAAGTTATTTAAGTAA c.1479
V T F L S S V E K L F K X p.492
. . . . . . g.21264
tgccatatctgtaaaattaaagatattttatataaactggttaaacaccttcatatgtaa c.*60
. . . . . . g.21324
atatttttctaaattcaatctcatttgtcaaatcattttactttagaaaacagacaaaat c.*120
. . . . . . g.21384
ttccttttagaataaaaggaagtgttgaaaagaaaatggatgactagccttcggcttcca c.*180
. . . . . . g.21444
ttcttggtatacatgagagaggctggctgctgagatgaatgtgaaccaggttgcagagaa c.*240
. . . . . . g.21504
tctggctttgagccaccaggaagaactagtggatttgccaaaaaactaccccttgagtga c.*300
. . . . . . g.21564
aaatgaagatgagggggacagtgatggagagagaaagcatcaaaagcttctggaagcaat c.*360
. . . . . . g.21624
catttcccttgatggaaagaataggcggaaattggctgagaggtctgaggctagtctgaa c.*420
. . . . . . g.21684
agtgtcagagttcagtgtcagttctgaaggatcaggagaaaagctgggccttgcagatct c.*480
. . . . . . g.21744
gcttgagcccgttaaaacttcatcttctttggccactgtaaaaaagcaactgaatagagt c.*540
. . . . . . g.21804
caaatcaaagaaggtggtggagttacctcttaacaaagaaaaaattgaacagatccacag c.*600
. . . . . . g.21864
agaagtagcattcagtaaaacctcacaggtcctctccaaatgggaccctatcatcctgaa c.*660
. . . . . . g.21924
gaaccagcaggcagagcagctggtttttcccctggggaaggagcagccagccattgctcc c.*720
. . . . . . g.21984
cattgaacatgcgctcagtggctggaaggcaagaactcccctggagcaggaaatttttaa c.*780
. . . . . . g.22044
cctcctccataagaacaagcagccagtgacagatcctttactgactcccatggaaaaggc c.*840
. . . . . . g.22104
ctctctccaagccatgagcctggaagaggcaaagatgcaccgagcagagcttcagagggc c.*900
. . . . . . g.22164
tcgggctctgcagtcctactatgaggccaaggctcgaaaagagaagaaaatcaaaagtaa c.*960
. . . . . . g.22224
aaagtatcacaaagtcgtgaagaaaggaaaggccaagaaagccttaaaagagtttgagca c.*1020
. . . g.22258
gctacagaaggttaatccaactgtggcactggaa c.*1054
(downstream sequence)
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