Canonical Allele Identifier: CA2317700321

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401226_1401227delinsCG , CM000681.2:g.1401226_1401227delinsCG	GRCh38
NC_000019.9:g.1401225_1401226delinsCG , CM000681.1:g.1401225_1401226delinsCG	GRCh37
NC_000019.8:g.1352225_1352226delinsCG	NCBI36
NG_009785.1:g.5327_5328delinsCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.181+69_181+70delinsCG MANE Select	ENSP00000252288.1:n.181+69_181+70delinsCG
ENST00000447102.8:c.181+69_181+70delinsCG	ENSP00000403536.2:n.181+69_181+70delinsCG
ENST00000640762.1:c.112+138_112+139delinsCG	ENSP00000492031.1:n.112+138_112+139delinsCG
ENST00000252288.6:c.181+69_181+70delinsCG	ENSP00000252288.1:n.181+69_181+70delinsCG
ENST00000447102.7:c.181+69_181+70delinsCG	ENSP00000403536.2:n.181+69_181+70delinsCG
NM_000156.5:c.181+69_181+70delinsCG	NP_000147.1:n.181+69_181+70delinsCG
NM_138924.2:c.181+69_181+70delinsCG	NP_620279.1:n.181+69_181+70delinsCG
NM_000156.6:c.181+69_181+70delinsCG MANE Select	NP_000147.1:n.181+69_181+70delinsCG
NM_138924.3:c.181+69_181+70delinsCG	NP_620279.1:n.181+69_181+70delinsCG