Canonical Allele Identifier: CA2317700374

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401305_1401308delinsAGGC , CM000681.2:g.1401305_1401308delinsAGGC	GRCh38
NC_000019.9:g.1401304_1401307delinsAGGC , CM000681.1:g.1401304_1401307delinsAGGC	GRCh37
NC_000019.8:g.1352304_1352307delinsAGGC	NCBI36
NG_009785.1:g.5246_5249delinsGCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.169_172delinsGCCT MANE Select	ENSP00000252288.1:p.Ala57=
ENST00000447102.8:c.169_172delinsGCCT	ENSP00000403536.2:p.Ala57=
ENST00000640762.1:c.112+57_112+60delinsGCCT	ENSP00000492031.1:n.112+57_112+60delinsGCCT
ENST00000252288.6:c.169_172delinsGCCT	ENSP00000252288.1:p.Ala57=
ENST00000447102.7:c.169_172delinsGCCT	ENSP00000403536.2:p.Ala57=
NM_000156.5:c.169_172delinsGCCT	NP_000147.1:p.Ala57=
NM_138924.2:c.169_172delinsGCCT	NP_620279.1:p.Ala57=
NM_000156.6:c.169_172delinsGCCT MANE Select	NP_000147.1:p.Ala57=
NM_138924.3:c.169_172delinsGCCT	NP_620279.1:p.Ala57=