Canonical Allele Identifier: CA2573150754

Gene: GATM

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45366460_45366461del , CM000677.2:g.45366460_45366461del	GRCh38
NC_000015.9:g.45658658_45658659del , CM000677.1:g.45658658_45658659del	GRCh37
NC_000015.8:g.43445950_43445951del	NCBI36
NG_011674.1:g.17323_17324del
NG_011674.2:g.40858_40859del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396659.8:c.724_725del MANE Select	ENSP00000379895.3:p.Gly242LysfsTer6
ENST00000674905.1:c.724_725del	ENSP00000502176.1:p.Gly242LysfsTer6
ENST00000675158.1:c.724_725del	ENSP00000501737.1:p.Gly242LysfsTer6
ENST00000675323.1:c.724_725del	ENSP00000502445.1:p.Gly242LysfsTer6
ENST00000675701.1:c.664_665del	ENSP00000502671.1:p.Gly222LysfsTer6
ENST00000675974.1:n.815_816del
ENST00000676090.1:c.*1455_*1456del	ENSP00000501630.1:n.*1455_*1456del
ENST00000396659.7:c.724_725del	ENSP00000379895.3:p.Gly242LysfsTer6
ENST00000558336.5:c.724_725del	ENSP00000454008.1:p.Gly242LysfsTer6
ENST00000558362.5:n.2380_2381del
ENST00000558916.1:n.622_623del
NM_001482.2:c.724_725del	NP_001473.1:p.Gly242LysfsTer6
XM_011521450.1:c.772_773del	XP_011519752.1:p.Gly258LysfsTer6
XM_011521451.1:c.766_767del	XP_011519753.1:p.Gly256LysfsTer6
NM_001321015.1:c.337_338del	NP_001307944.1:p.Gly113LysfsTer6
NM_001482.3:c.724_725del MANE Select	NP_001473.1:p.Gly242LysfsTer6
NM_001321015.2:c.337_338del	NP_001307944.1:p.Gly113LysfsTer6