Canonical Allele Identifier: CA2317699102

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399115_1399119delinsCAGAG , CM000681.2:g.1399115_1399119delinsCAGAG	GRCh38
NC_000019.9:g.1399114_1399118delinsCAGAG , CM000681.1:g.1399114_1399118delinsCAGAG	GRCh37
NC_000019.8:g.1350114_1350118delinsCAGAG	NCBI36
NG_009785.1:g.7435_7439delinsCTCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.459+9_459+13delinsCTCTG MANE Select	ENSP00000252288.1:n.459+9_459+13delinsCTCTG
ENST00000447102.8:c.459+9_459+13delinsCTCTG	ENSP00000403536.2:n.459+9_459+13delinsCTCTG
ENST00000591788.3:c.142+9_142+13delinsCTCTG
ENST00000640164.1:n.292+9_292+13delinsCTCTG
ENST00000640762.1:c.390+9_390+13delinsCTCTG	ENSP00000492031.1:n.390+9_390+13delinsCTCTG
ENST00000252288.6:c.459+9_459+13delinsCTCTG	ENSP00000252288.1:n.459+9_459+13delinsCTCTG
ENST00000447102.7:c.459+9_459+13delinsCTCTG	ENSP00000403536.2:n.459+9_459+13delinsCTCTG
ENST00000591788.2:c.144+9_144+13delinsCTCTG	ENSP00000466341.2:n.144+9_144+13delinsCTCTG
NM_000156.5:c.459+9_459+13delinsCTCTG	NP_000147.1:n.459+9_459+13delinsCTCTG
NM_138924.2:c.459+9_459+13delinsCTCTG	NP_620279.1:n.459+9_459+13delinsCTCTG
NM_000156.6:c.459+9_459+13delinsCTCTG MANE Select	NP_000147.1:n.459+9_459+13delinsCTCTG
NM_138924.3:c.459+9_459+13delinsCTCTG	NP_620279.1:n.459+9_459+13delinsCTCTG