Canonical Allele Identifier: CA891843836

Gene: GATM

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45362172del , CM000677.2:g.45362172del	GRCh38
NC_000015.9:g.45654370del , CM000677.1:g.45654370del	GRCh37
NC_000015.8:g.43441662del	NCBI36
NG_011674.1:g.21611del
NG_011674.2:g.45146del

Transcript Alleles

HGVS	Amino-acid Change
NM_001482.3:c.1209del MANE Select	NP_001473.1:p.Gly404AlafsTer24
ENST00000396659.8:c.1209del MANE Select	ENSP00000379895.3:p.Gly404AlafsTer24
NM_001321015.1:c.822del	NP_001307944.1:p.Gly275AlafsTer24
NM_001321015.2:c.822del	NP_001307944.1:p.Gly275AlafsTer24
NM_001482.2:c.1209del	NP_001473.1:p.Gly404AlafsTer24
ENST00000396659.7:c.1209del	ENSP00000379895.3:p.Gly404AlafsTer24
ENST00000558362.5:n.2865del
ENST00000674905.1:c.*171del	ENSP00000502176.1:n.*171del
ENST00000675158.1:c.*109del	ENSP00000501737.1:n.*109del
ENST00000675323.1:c.*1711del	ENSP00000502445.1:n.*1711del
ENST00000675701.1:c.1149del	ENSP00000502671.1:p.Gly384AlafsTer24
ENST00000675974.1:n.3758del
ENST00000676090.1:c.*1940del	ENSP00000501630.1:n.*1940del
XM_011521450.1:c.1257del	XP_011519752.1:p.Gly420AlafsTer24
XM_011521451.1:c.1251del	XP_011519753.1:p.Gly418AlafsTer24