Canonical Allele Identifier: CA2582641465

Gene: GAMT

Linked Data

• gnomAD v4: 19-1399770-A-AGGTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399772_1399773insTGGGG , CM000681.2:g.1399772_1399773insTGGGG	GRCh38
NC_000019.9:g.1399771_1399772insTGGGG , CM000681.1:g.1399771_1399772insTGGGG	GRCh37
NC_000019.8:g.1350771_1350772insTGGGG	NCBI36
NG_009785.1:g.6783_6784insCCACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.327+22_327+23insCCACC MANE Select	ENSP00000252288.1:n.327+22_327+23insCCACC
ENST00000447102.8:c.327+22_327+23insCCACC	ENSP00000403536.2:n.327+22_327+23insCCACC
ENST00000591788.3:c.10+22_10+23insCCACC
ENST00000640762.1:c.258+22_258+23insCCACC	ENSP00000492031.1:n.258+22_258+23insCCACC
ENST00000252288.6:c.327+22_327+23insCCACC	ENSP00000252288.1:n.327+22_327+23insCCACC
ENST00000447102.7:c.327+22_327+23insCCACC	ENSP00000403536.2:n.327+22_327+23insCCACC
ENST00000591788.2:c.12+22_12+23insCCACC	ENSP00000466341.2:n.12+22_12+23insCCACC
NM_000156.5:c.327+22_327+23insCCACC	NP_000147.1:n.327+22_327+23insCCACC
NM_138924.2:c.327+22_327+23insCCACC	NP_620279.1:n.327+22_327+23insCCACC
NM_000156.6:c.327+22_327+23insCCACC MANE Select	NP_000147.1:n.327+22_327+23insCCACC
NM_138924.3:c.327+22_327+23insCCACC	NP_620279.1:n.327+22_327+23insCCACC