Canonical Allele Identifier: CA2609912472

Gene: MAT1A

Linked Data

• gnomAD v4: 10-80273490-G-GGTGTA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80273491_80273492insTGTAG , CM000672.2:g.80273491_80273492insTGTAG	GRCh38
NC_000010.10:g.82033247_82033248insTGTAG , CM000672.1:g.82033247_82033248insTGTAG	GRCh37
NC_000010.9:g.82023227_82023228insTGTAG	NCBI36
NG_008083.1:g.21188_21189insTACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.*290_*291insTACAC MANE Select	ENSP00000361287.3:n.*290_*291insTACAC
ENST00000372213.7:c.*290_*291insTACAC	ENSP00000361287.3:n.*290_*291insTACAC
ENST00000480845.1:n.620+90_620+91insTACAC
ENST00000485270.5:n.990_991insTACAC
NM_000429.2:c.*290_*291insTACAC	NP_000420.1:n.*290_*291insTACAC
XM_005269842.3:c.*290_*291insTACAC	XP_005269899.1:n.*290_*291insTACAC
XM_005269843.3:c.*290_*291insTACAC	XP_005269900.1:n.*290_*291insTACAC
NM_000429.3:c.*290_*291insTACAC MANE Select	NP_000420.1:n.*290_*291insTACAC