Canonical Allele Identifier: CA2580096101

Gene: GAMT

Linked Data

• ClinVar Variation Id: 1998188
• ClinVar RCV Id: RCV002810280
• gnomAD v4: 19-1401411-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401412del , CM000681.2:g.1401412del	GRCh38
NC_000019.9:g.1401411del , CM000681.1:g.1401411del	GRCh37
NC_000019.8:g.1352411del	NCBI36
NG_009785.1:g.5142del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.65del MANE Select	ENSP00000252288.1:p.Ala22GlyfsTer20
ENST00000447102.8:c.65del	ENSP00000403536.2:p.Ala22GlyfsTer20
ENST00000640762.1:c.65del	ENSP00000492031.1:p.Ala22GlyfsTer?
ENST00000252288.6:c.65del	ENSP00000252288.1:p.Ala22GlyfsTer20
ENST00000447102.7:c.65del	ENSP00000403536.2:p.Ala22GlyfsTer20
NM_000156.5:c.65del	NP_000147.1:p.Ala22GlyfsTer20
NM_138924.2:c.65del	NP_620279.1:p.Ala22GlyfsTer20
NM_000156.6:c.65del MANE Select	NP_000147.1:p.Ala22GlyfsTer20
NM_138924.3:c.65del	NP_620279.1:p.Ala22GlyfsTer20