Canonical Allele Identifier: CA2539220257

Gene: GAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.170837111_170837117del , CM000664.2:g.170837111_170837117del	GRCh38
NC_000002.11:g.171693621_171693627del , CM000664.1:g.171693621_171693627del	GRCh37
NC_000002.10:g.171401867_171401873del	NCBI36
NG_021477.1:g.25422_25428del

Transcript Alleles

HGVS	Amino-acid change
ENST00000358196.8:c.638+228_638+234del MANE Select	ENSP00000350928.3:n.638+228_638+234del
ENST00000344257.9:c.638+228_638+234del	ENSP00000341167.5:n.638+228_638+234del
ENST00000358196.7:c.638+228_638+234del	ENSP00000350928.3:n.638+228_638+234del
ENST00000375272.5:c.638+228_638+234del	ENSP00000364421.1:n.638+228_638+234del
ENST00000414527.6:c.638+228_638+234del	ENSP00000403849.1:n.638+228_638+234del
ENST00000429023.1:n.619+228_619+234del
ENST00000493875.5:c.638+228_638+234del	ENSP00000434696.1:n.638+228_638+234del
ENST00000625689.2:c.638+228_638+234del	ENSP00000486612.1:n.638+228_638+234del
NM_000817.2:c.638+228_638+234del	NP_000808.2:n.638+228_638+234del
NM_013445.3:c.638+228_638+234del	NP_038473.2:n.638+228_638+234del
XM_005246444.2:c.638+228_638+234del	XP_005246501.1:n.638+228_638+234del
XM_011510922.1:c.638+228_638+234del	XP_011509224.1:n.638+228_638+234del
XM_005246444.3:c.638+228_638+234del	XP_005246501.1:n.638+228_638+234del
XM_017003756.1:c.638+228_638+234del	XP_016859245.1:n.638+228_638+234del
XM_017003757.2:c.638+228_638+234del	XP_016859246.1:n.638+228_638+234del
XM_017003758.2:c.638+228_638+234del	XP_016859247.1:n.638+228_638+234del
NM_000817.3:c.638+228_638+234del MANE Select	NP_000808.2:n.638+228_638+234del
NM_013445.4:c.638+228_638+234del	NP_038473.2:n.638+228_638+234del