Canonical Allele Identifier: CA760613631
Gene: GAD1 HGNC NCBI

Linked Data

dbSNP Id: rs1250298093
gnomAD v3: 2-170814228-A-AC
gnomAD v4: 2-170814228-A-AC
MyVariant Identifiers: chr2:g.171670738_171670739insC (hg19) chr2:g.170814228_170814229insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.170814234dup , CM000664.2:g.170814234dup GRCh38
NC_000002.11:g.171670744dup , CM000664.1:g.171670744dup GRCh37
NC_000002.10:g.171378990dup NCBI36
NG_021477.1:g.2545dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000454603.5:c.-64+812dup ENSP00000402366.1:n.-64+812dup
XM_011510922.1:c.-64+812dup XP_011509224.1:n.-64+812dup
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