Canonical Allele Identifier: CA2788703080

Gene: MAT1A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80275103_80275104insCGAA , CM000672.2:g.80275103_80275104insCGAA	GRCh38
NC_000010.10:g.82034859_82034860insCGAA , CM000672.1:g.82034859_82034860insCGAA	GRCh37
NC_000010.9:g.82024839_82024840insCGAA	NCBI36
NG_008083.1:g.19575_19576insTTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.864_865insTTCG MANE Select	ENSP00000361287.3:p.Lys289PhefsTer?
ENST00000372213.7:c.864_865insTTCG	ENSP00000361287.3:p.Lys289PhefsTer?
ENST00000480845.1:n.96_97insTTCG
ENST00000485270.5:n.376_377insTTCG
NM_000429.2:c.864_865insTTCG	NP_000420.1:p.Lys289PhefsTer?
XM_005269842.3:c.864_865insTTCG	XP_005269899.1:p.Lys289PhefsTer?
XM_005269843.3:c.741_742insTTCG	XP_005269900.1:p.Lys248PhefsTer?
NM_000429.3:c.864_865insTTCG MANE Select	NP_000420.1:p.Lys289PhefsTer?