Canonical Allele Identifier: CA915942137
Gene: GAD1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.170852780_170852781delinsTT , CM000664.2:g.170852780_170852781delinsTT GRCh38
NC_000002.11:g.171709290_171709291delinsTT , CM000664.1:g.171709290_171709291delinsTT GRCh37
NC_000002.10:g.171417536_171417537delinsTT NCBI36
NG_021477.1:g.41091_41092delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000358196.8:c.1251_1252delinsTT MANE Select ENSP00000350928.3:p.Val418Phe
ENST00000358196.7:c.1251_1252delinsTT ENSP00000350928.3:p.Val418Phe
ENST00000414527.6:c.*436_*437delinsTT ENSP00000403849.1:n.*436_*437delinsTT
ENST00000478562.1:n.293_294delinsTT
ENST00000488724.5:n.351_352delinsTT
ENST00000493875.5:c.*85_*86delinsTT ENSP00000434696.1:n.*85_*86delinsTT
ENST00000625689.2:c.*85_*86delinsTT ENSP00000486612.1:n.*85_*86delinsTT
NM_000817.2:c.1251_1252delinsTT NP_000808.2:p.Val418Phe
XM_011510922.1:c.1251_1252delinsTT XP_011509224.1:p.Val418Phe
XM_017003756.1:c.1251_1252delinsTT XP_016859245.1:p.Val418Phe
XM_024452783.1:c.483_484delinsTT XP_024308551.1:p.Val162Phe
NM_000817.3:c.1251_1252delinsTT MANE Select NP_000808.2:p.Val418Phe
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