Canonical Allele Identifier: CA2317699416

Gene: GAMT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399683_1399686delinsGAGA , CM000681.2:g.1399683_1399686delinsGAGA	GRCh38
NC_000019.9:g.1399682_1399685delinsGAGA , CM000681.1:g.1399682_1399685delinsGAGA	GRCh37
NC_000019.8:g.1350682_1350685delinsGAGA	NCBI36
NG_009785.1:g.6868_6871delinsTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.328-99_328-96delinsTCTC MANE Select	ENSP00000252288.1:n.328-99_328-96delinsTCTC
ENST00000447102.8:c.328-99_328-96delinsTCTC	ENSP00000403536.2:n.328-99_328-96delinsTCTC
ENST00000591788.3:c.11-99_11-96delinsTCTC
ENST00000640164.1:n.62_65delinsTCTC
ENST00000640762.1:c.259-99_259-96delinsTCTC	ENSP00000492031.1:n.259-99_259-96delinsTCTC
ENST00000252288.6:c.328-99_328-96delinsTCTC	ENSP00000252288.1:n.328-99_328-96delinsTCTC
ENST00000447102.7:c.328-99_328-96delinsTCTC	ENSP00000403536.2:n.328-99_328-96delinsTCTC
ENST00000591788.2:c.13-99_13-96delinsTCTC	ENSP00000466341.2:n.13-99_13-96delinsTCTC
NM_000156.5:c.328-99_328-96delinsTCTC	NP_000147.1:n.328-99_328-96delinsTCTC
NM_138924.2:c.328-99_328-96delinsTCTC	NP_620279.1:n.328-99_328-96delinsTCTC
NM_000156.6:c.328-99_328-96delinsTCTC MANE Select	NP_000147.1:n.328-99_328-96delinsTCTC
NM_138924.3:c.328-99_328-96delinsTCTC	NP_620279.1:n.328-99_328-96delinsTCTC