Canonical Allele Identifier: CA2544980091

Gene: MAT1A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80280313_80280314del , CM000672.2:g.80280313_80280314del	GRCh38
NC_000010.10:g.82040069_82040070del , CM000672.1:g.82040069_82040070del	GRCh37
NC_000010.9:g.82030049_82030050del	NCBI36
NG_008083.1:g.14366_14367del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.409_410del MANE Select	ENSP00000361287.3:p.Leu137AspfsTer?
ENST00000372213.7:c.409_410del	ENSP00000361287.3:p.Leu137AspfsTer?
ENST00000455001.1:c.220_221del	ENSP00000414961.1:p.Leu74AspfsTer?
NM_000429.2:c.409_410del	NP_000420.1:p.Leu137AspfsTer?
XM_005269842.3:c.409_410del	XP_005269899.1:p.Leu137AspfsTer?
XM_005269843.3:c.286_287del	XP_005269900.1:p.Leu96AspfsTer?
NM_000429.3:c.409_410del MANE Select	NP_000420.1:p.Leu137AspfsTer?