(used for variant description)
(last modified June 28, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_005584.4 in the MAB21L1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000013.10, covering MAB21L1 transcript NM_005584.4.
(upstream sequence)
. g.5017
gctcttagacaaaccaa c.-541
. . . . . . g.5077
cagcagcttcttctgacatatacacacgcacactcaccccggacacacactcagcacact c.-481
. . . . . . g.5137
tttcctccatttgattaacagtgctgcacacacaatgattacgggaaagcgcaaataaat c.-421
. . . . . . g.5197
acggaaaggggtgcttattttgactactggaagagctttgctgggtctcagcgcaacttt c.-361
. . . . . . g.5257
tgttttttattcctgagaaggtgatctctccatgcggttctctcacacaaggattcttta c.-301
. . . . . . g.5317
aaagaggaagagagacaagcagaggggggaggacagtctttcactttaagaacggctggg c.-241
. . . . . . g.5377
ctcaaagataaaaggaagggaaaagcagcagcagcagcagcagcagcagcagcagcagca c.-181
. . . . . . g.5437
gcagcagcagcagcagcagcagggaaaccaacgctgcagcacttccgaaaggcatttttg c.-121
. . . . . . g.5497
atccatttctgagtgttgcggcccgtttctccaccgaagttggctccagctctagcagcc c.-61
. . . . . . g.5557
gcattggatcccacagcttactgcgagactccggtgtacaatccggatctctgccccaac c.-1
. . . . . . g.5617
ATGATTGCGGCCCAGGCCAAGCTGGTCTACCATCTGAATAAATACTACAACGAAAAATGC c.60
M I A A Q A K L V Y H L N K Y Y N E K C p.20
. . . . . . g.5677
CAAGCCAGGAAAGCTGCCATTGCCAAAACTATCCGGGAAGTCTGCAAAGTAGTTTCCGAC c.120
Q A R K A A I A K T I R E V C K V V S D p.40
. . . . . . g.5737
GTACTGAAGGAAGTGGAAGTGCAGGAGCCGCGGTTCATCAGCTCTCTCAACGAGATGGAC c.180
V L K E V E V Q E P R F I S S L N E M D p.60
. . . . . . g.5797
AATCGCTACGAGGGCCTCGAGGTCATCTCCCCCACCGAATTTGAAGTGGTGCTTTATCTC c.240
N R Y E G L E V I S P T E F E V V L Y L p.80
. . . . . . g.5857
AACCAAATGGGGGTGTTCAACTTCGTGGACGATGGCTCACTGCCCGGCTGCGCGGTGCTG c.300
N Q M G V F N F V D D G S L P G C A V L p.100
. . . . . . g.5917
AAGTTGAGCGACGGGCGCAAGAGGAGCATGTCCCTCTGGGTGGAATTCATTACCGCCTCC c.360
K L S D G R K R S M S L W V E F I T A S p.120
. . . . . . g.5977
GGCTACCTCTCGGCGCGCAAAATCCGGTCCAGGTTTCAGACGCTGGTGGCTCAAGCGGTA c.420
G Y L S A R K I R S R F Q T L V A Q A V p.140
. . . . . . g.6037
GACAAATGTAGCTACCGGGATGTGGTAAAGATGGTGGCAGACACCAGCGAAGTGAAACTG c.480
D K C S Y R D V V K M V A D T S E V K L p.160
. . . . . . g.6097
AGAATCCGAGATAGGTACGTGGTGCAGATCACGCCGGCCTTTAAATGCACCGGGATCTGG c.540
R I R D R Y V V Q I T P A F K C T G I W p.180
. . . . . . g.6157
CCGAGGAGTGCTGCCCACTGGCCACTTCCCCACATCCCCTGGCCGGGACCCAACCGGGTG c.600
P R S A A H W P L P H I P W P G P N R V p.200
. . . . . . g.6217
GCGGAGGTCAAGGCGGAAGGTTTCAATCTCTTGTCCAAGGAGTGCCACTCCTTGGCCGGC c.660
A E V K A E G F N L L S K E C H S L A G p.220
. . . . . . g.6277
AAGCAGAGCTCGGCGGAGAGCGACGCCTGGGTGCTGCAGTTCGCGGAGGCAGAGAACAGA c.720
K Q S S A E S D A W V L Q F A E A E N R p.240
. . . . . . g.6337
CTGCAGATGGGGGGCTGCAGAAAGAAGTGCCTCTCCATCCTCAAAACCTTAAGGGATCGT c.780
L Q M G G C R K K C L S I L K T L R D R p.260
. . . . . . g.6397
CACCTTGAACTGCCGGGCCAGCCCTTGAACAATTACCATATGAAGACTCTGGTTTCCTAC c.840
H L E L P G Q P L N N Y H M K T L V S Y p.280
. . . . . . g.6457
GAGTGTGAAAAGCATCCCCGAGAGTCGGACTGGGACGAGTCTTGCCTGGGTGATCGGCTG c.900
E C E K H P R E S D W D E S C L G D R L p.300
. . . . . . g.6517
AACGGGATTTTGCTGCAACTTATCTCCTGCCTGCAGTGCCGGCGGTGTCCCCACTACTTT c.960
N G I L L Q L I S C L Q C R R C P H Y F p.320
. . . . . . g.6577
CTACCGAACTTAGATCTGTTTCAAGGCAAACCTCACTCAGCTCTGGAAAACGCTGCCAAA c.1020
L P N L D L F Q G K P H S A L E N A A K p.340
. . . . . . g.6637
CAAACGTGGCGACTGGCAAGAGAGATCCTGACCAACCCGAAAAGTTTGGAAAAACTTTAG c.1080
Q T W R L A R E I L T N P K S L E K L X p.359
. . . . . . g.6697
aggatgatttaatcaagagccgaaattattacccttctcaaagtccttattaagtgtaaa c.*60
. . . . . . g.6757
cttctgttcaattcctaatattccactccgcagtgcaaacaatctcttcctttaaaaagg c.*120
. . . . . . g.6817
aataataatacaatatttaaacatcatctcacccacccccacaaggggagaaaaagtagg c.*180
. . . . . . g.6877
ggaagcggatggagaaaaacccaaagccactagtattagaagacttctttccacacgatt c.*240
. . . . . . g.6937
tcctatctcccttgaaaagtacaccgtaacactccgtaaacagcccagctgtaacgccag c.*300
. . . . . . g.6997
accgagacgaacactctgcctaactatcaaaggattatagcaatcctggtgatttaggtg c.*360
. . . . . . g.7057
catctgtctgtgagtaaacacgatttggatatgccatctgaaagaaactgtaatgtatat c.*420
. . . . . . g.7117
tttgatttgtaacaaatattgtgatctcacattgtctttgaaagtgtggatgttggtgtt c.*480
. . . . . . g.7177
ttgtgatttggtgaacagaacttaaattgccattctggatacttccagacattttccact c.*540
. . . . . . g.7237
aacaaagatatcatttaaaggtagatttcttcctggtacttttatctgtctttgaaagtg c.*600
. . . . . . g.7297
tctgaactttaaaaagtttacattttgtttcaaatattgcttgttctatttctaacattc c.*660
. . . . . . g.7357
cataaatatacttgaaatgttatttaaatatattcaaagaaatttgaattcagcttatat c.*720
. . . . . . g.7417
aataacgcttgaatatctgaattatatatttgaaaaatgcacttgaaatacactggataa c.*780
. . . . . . g.7477
ttacttttgtgatttagattttaatttgttgctggtttttatttaattagatggtaataa c.*840
. . . . . . g.7537
atgaagtaaaataaaagttgttgtgtctcactttaaattgtttcctatcacaagatgtaa c.*900
. . . . . . g.7597
tgatgcattttgaaaatcaaacccacttgaatatcttaaatattttgagaaatatgctaa c.*960
. . . . . . g.7657
tgaaatccttaaaaataaaacattggagaaaagctctttctgtataggtccataagataa c.*1020
. . . . . . g.7717
caatctactctcagtctctaacttacttgtaagacaattcctttctacaacagaaacaat c.*1080
. . . . . . g.7777
ttaaatctacctttgaaagcttgctcttcttgtagcatttttgataatataagaaaaaaa c.*1140
. . . . . . g.7837
gtctatcatgacagtagagatgactgagttaaaaatctgactaattcagaggaaatgaac c.*1200
. . . . . . g.7897
ttaacaaagtcataatgaaacttcgaaaattatgtatgaaaactaataaaacgatccttt c.*1260
. g.7907
ctgaccaata c.*1270
(downstream sequence)
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