Canonical Allele Identifier: CA1922577741

Gene: MAT1A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80274419_80274420delinsGA , CM000672.2:g.80274419_80274420delinsGA	GRCh38
NC_000010.10:g.82034175_82034176delinsGA , CM000672.1:g.82034175_82034176delinsGA	GRCh37
NC_000010.9:g.82024155_82024156delinsGA	NCBI36
NG_008083.1:g.20259_20260delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.1085+100_1085+101delinsTC MANE Select	ENSP00000361287.3:n.1085+100_1085+101delinsTC
ENST00000372213.7:c.1085+100_1085+101delinsTC	ENSP00000361287.3:n.1085+100_1085+101delinsTC
ENST00000480845.1:n.317+100_317+101delinsTC
ENST00000485270.5:n.597+100_597+101delinsTC
NM_000429.2:c.1085+100_1085+101delinsTC	NP_000420.1:n.1085+100_1085+101delinsTC
XM_005269842.3:c.1085+100_1085+101delinsTC	XP_005269899.1:n.1085+100_1085+101delinsTC
XM_005269843.3:c.962+100_962+101delinsTC	XP_005269900.1:n.962+100_962+101delinsTC
NM_000429.3:c.1085+100_1085+101delinsTC MANE Select	NP_000420.1:n.1085+100_1085+101delinsTC