Canonical Allele Identifier: CA645614610

Gene: GAMT

Linked Data

• COSMIC: COSM4746484 ; COSM4746485

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399176del , CM000681.2:g.1399176del	GRCh38
NC_000019.9:g.1399175del , CM000681.1:g.1399175del	GRCh37
NC_000019.8:g.1350175del	NCBI36
NG_009785.1:g.7380del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.413del MANE Select	ENSP00000252288.1:p.Pro138HisfsTer23
ENST00000447102.8:c.413del	ENSP00000403536.2:p.Pro138HisfsTer23
ENST00000591788.3:c.96del
ENST00000640164.1:n.246del
ENST00000640762.1:c.344del	ENSP00000492031.1:p.Pro115HisfsTer23
ENST00000252288.6:c.413del	ENSP00000252288.1:p.Pro138HisfsTer23
ENST00000447102.7:c.413del	ENSP00000403536.2:p.Pro138HisfsTer23
ENST00000591788.2:c.98del	ENSP00000466341.2:p.Pro33HisfsTer23
NM_000156.5:c.413del	NP_000147.1:p.Pro138HisfsTer23
NM_138924.2:c.413del	NP_620279.1:p.Pro138HisfsTer23
NM_000156.6:c.413del MANE Select	NP_000147.1:p.Pro138HisfsTer23
NM_138924.3:c.413del	NP_620279.1:p.Pro138HisfsTer23