Canonical Allele Identifier: CA2317700289

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401160_1401161delinsCT , CM000681.2:g.1401160_1401161delinsCT	GRCh38
NC_000019.9:g.1401159_1401160delinsCT , CM000681.1:g.1401159_1401160delinsCT	GRCh37
NC_000019.8:g.1352159_1352160delinsCT	NCBI36
NG_009785.1:g.5393_5394delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.181+135_181+136delinsAG MANE Select	ENSP00000252288.1:n.181+135_181+136delinsAG
ENST00000447102.8:c.181+135_181+136delinsAG	ENSP00000403536.2:n.181+135_181+136delinsAG
ENST00000640762.1:c.112+204_112+205delinsAG	ENSP00000492031.1:n.112+204_112+205delinsAG
ENST00000252288.6:c.181+135_181+136delinsAG	ENSP00000252288.1:n.181+135_181+136delinsAG
ENST00000447102.7:c.181+135_181+136delinsAG	ENSP00000403536.2:n.181+135_181+136delinsAG
NM_000156.5:c.181+135_181+136delinsAG	NP_000147.1:n.181+135_181+136delinsAG
NM_138924.2:c.181+135_181+136delinsAG	NP_620279.1:n.181+135_181+136delinsAG
NM_000156.6:c.181+135_181+136delinsAG MANE Select	NP_000147.1:n.181+135_181+136delinsAG
NM_138924.3:c.181+135_181+136delinsAG	NP_620279.1:n.181+135_181+136delinsAG