Canonical Allele Identifier: CA537695003
Gene: GAD1 HGNC NCBI

Linked Data

dbSNP Id: rs1300291719
gnomAD v2: 2-171670646-AGGTTT-A
gnomAD v3: 2-170814136-AGGTTT-A
gnomAD v4: 2-170814136-AGGTTT-A
MyVariant Identifiers: chr2:g.171670647_171670651del (hg19) chr2:g.170814137_170814141del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.170814137_170814141del , CM000664.2:g.170814137_170814141del GRCh38
NC_000002.11:g.171670647_171670651del , CM000664.1:g.171670647_171670651del GRCh37
NC_000002.10:g.171378893_171378897del NCBI36
NG_021477.1:g.2448_2452del

Transcript Alleles

HGVS Amino-acid Change
ENST00000454603.5:c.-64+715_-64+719del ENSP00000402366.1:n.-64+715_-64+719del
XM_011510922.1:c.-64+715_-64+719del XP_011509224.1:n.-64+715_-64+719del
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