Canonical Allele Identifier: CA2508362330

Gene: MAT1A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80275197_80275198insAGCTCGA , CM000672.2:g.80275197_80275198insAGCTCGA	GRCh38
NC_000010.10:g.82034953_82034954insAGCTCGA , CM000672.1:g.82034953_82034954insAGCTCGA	GRCh37
NC_000010.9:g.82024933_82024934insAGCTCGA	NCBI36
NG_008083.1:g.19481_19482insTCGAGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.770_771insTCGAGCT MANE Select	ENSP00000361287.3:p.Asp258ArgfsTer10
ENST00000372213.7:c.770_771insTCGAGCT	ENSP00000361287.3:p.Asp258ArgfsTer10
ENST00000480845.1:n.2_3insTCGAGCT
ENST00000485270.5:n.282_283insTCGAGCT
NM_000429.2:c.770_771insTCGAGCT	NP_000420.1:p.Asp258ArgfsTer10
XM_005269842.3:c.770_771insTCGAGCT	XP_005269899.1:p.Asp258ArgfsTer10
XM_005269843.3:c.647_648insTCGAGCT	XP_005269900.1:p.Asp217ArgfsTer10
NM_000429.3:c.770_771insTCGAGCT MANE Select	NP_000420.1:p.Asp258ArgfsTer10