Canonical Allele Identifier: CA2609912884

Gene: MAT1A

Linked Data

• gnomAD v4: 10-80274431-TCCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80274433_80274436del , CM000672.2:g.80274433_80274436del	GRCh38
NC_000010.10:g.82034189_82034192del , CM000672.1:g.82034189_82034192del	GRCh37
NC_000010.9:g.82024169_82024172del	NCBI36
NG_008083.1:g.20244_20247del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.1085+85_1085+88del MANE Select	ENSP00000361287.3:n.1085+85_1085+88del
ENST00000372213.7:c.1085+85_1085+88del	ENSP00000361287.3:n.1085+85_1085+88del
ENST00000480845.1:n.317+85_317+88del
ENST00000485270.5:n.597+85_597+88del
NM_000429.2:c.1085+85_1085+88del	NP_000420.1:n.1085+85_1085+88del
XM_005269842.3:c.1085+85_1085+88del	XP_005269899.1:n.1085+85_1085+88del
XM_005269843.3:c.962+85_962+88del	XP_005269900.1:n.962+85_962+88del
NM_000429.3:c.1085+85_1085+88del MANE Select	NP_000420.1:n.1085+85_1085+88del