Canonical Allele Identifier: CA2582641449

Gene: GAMT

Linked Data

• gnomAD v4: 19-1399760-G-GCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399760_1399761insCCA , CM000681.2:g.1399760_1399761insCCA	GRCh38
NC_000019.9:g.1399759_1399760insCCA , CM000681.1:g.1399759_1399760insCCA	GRCh37
NC_000019.8:g.1350759_1350760insCCA	NCBI36
NG_009785.1:g.6793_6794insTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.327+32_327+33insTGG MANE Select	ENSP00000252288.1:n.327+32_327+33insTGG
ENST00000447102.8:c.327+32_327+33insTGG	ENSP00000403536.2:n.327+32_327+33insTGG
ENST00000591788.3:c.10+32_10+33insTGG
ENST00000640762.1:c.258+32_258+33insTGG	ENSP00000492031.1:n.258+32_258+33insTGG
ENST00000252288.6:c.327+32_327+33insTGG	ENSP00000252288.1:n.327+32_327+33insTGG
ENST00000447102.7:c.327+32_327+33insTGG	ENSP00000403536.2:n.327+32_327+33insTGG
ENST00000591788.2:c.12+32_12+33insTGG	ENSP00000466341.2:n.12+32_12+33insTGG
NM_000156.5:c.327+32_327+33insTGG	NP_000147.1:n.327+32_327+33insTGG
NM_138924.2:c.327+32_327+33insTGG	NP_620279.1:n.327+32_327+33insTGG
NM_000156.6:c.327+32_327+33insTGG MANE Select	NP_000147.1:n.327+32_327+33insTGG
NM_138924.3:c.327+32_327+33insTGG	NP_620279.1:n.327+32_327+33insTGG