Canonical Allele Identifier: CA2564447419

Gene: MAT1A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80275197_80275198insAGCTCGACGCTG , CM000672.2:g.80275197_80275198insAGCTCGACGCTG	GRCh38
NC_000010.10:g.82034953_82034954insAGCTCGACGCTG , CM000672.1:g.82034953_82034954insAGCTCGACGCTG	GRCh37
NC_000010.9:g.82024933_82024934insAGCTCGACGCTG	NCBI36
NG_008083.1:g.19481_19482insCAGCGTCGAGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.770_771insCAGCGTCGAGCT MANE Select	ENSP00000361287.3:p.Gly257_Asp258insSerValGluLeu
ENST00000372213.7:c.770_771insCAGCGTCGAGCT	ENSP00000361287.3:p.Gly257_Asp258insSerValGluLeu
ENST00000480845.1:n.2_3insCAGCGTCGAGCT
ENST00000485270.5:n.282_283insCAGCGTCGAGCT
NM_000429.2:c.770_771insCAGCGTCGAGCT	NP_000420.1:p.Gly257_Asp258insSerValGluLeu
XM_005269842.3:c.770_771insCAGCGTCGAGCT	XP_005269899.1:p.Gly257_Asp258insSerValGluLeu
XM_005269843.3:c.647_648insCAGCGTCGAGCT	XP_005269900.1:p.Gly216_Asp217insSerValGluLeu
NM_000429.3:c.770_771insCAGCGTCGAGCT MANE Select	NP_000420.1:p.Gly257_Asp258insSerValGluLeu