Canonical Allele Identifier: CA2528053591

Gene: MAT1A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80274627_80274628insGAAGAGCATTGGTTTTCCGCGCGGTTTGCCTGCCCCGTATGT , CM000672.2:g.80274627_80274628insGAAGAGCATTGGTTTTCCGCGCGGTTTGCCTGCCCCGTATGT	GRCh38
NC_000010.10:g.82034383_82034384insGAAGAGCATTGGTTTTCCGCGCGGTTTGCCTGCCCCGTATGT , CM000672.1:g.82034383_82034384insGAAGAGCATTGGTTTTCCGCGCGGTTTGCCTGCCCCGTATGT	GRCh37
NC_000010.9:g.82024363_82024364insGAAGAGCATTGGTTTTCCGCGCGGTTTGCCTGCCCCGTATGT	NCBI36
NG_008083.1:g.20051_20052insACATACGGGGCAGGCAAACCGCGCGGAAAACCAATGCTCTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.977_978insACATACGGGGCAGGCAAACCGCGCGGAAAACCAATGCTCTTC MANE Select	ENSP00000361287.3:p.Glu326_Pro327insHisThrGlyGlnAlaAsnArgAlaG...
ENST00000372213.7:c.977_978insACATACGGGGCAGGCAAACCGCGCGGAAAACCAATGCTCTTC	ENSP00000361287.3:p.Glu326_Pro327insHisThrGlyGlnAlaAsnArgAlaG...
ENST00000480845.1:n.209_210insACATACGGGGCAGGCAAACCGCGCGGAAAACCAATGCTCTTC
ENST00000485270.5:n.489_490insACATACGGGGCAGGCAAACCGCGCGGAAAACCAATGCTCTTC
NM_000429.2:c.977_978insACATACGGGGCAGGCAAACCGCGCGGAAAACCAATGCTCTTC	NP_000420.1:p.Glu326_Pro327insHisThrGlyGlnAlaAsnArgAlaGluAsnG...
XM_005269842.3:c.977_978insACATACGGGGCAGGCAAACCGCGCGGAAAACCAATGCTCTTC	XP_005269899.1:p.Glu326_Pro327insHisThrGlyGlnAlaAsnArgAlaGluA...
XM_005269843.3:c.854_855insACATACGGGGCAGGCAAACCGCGCGGAAAACCAATGCTCTTC	XP_005269900.1:p.Glu285_Pro286insHisThrGlyGlnAlaAsnArgAlaGluA...
NM_000429.3:c.977_978insACATACGGGGCAGGCAAACCGCGCGGAAAACCAATGCTCTTC MANE Select	NP_000420.1:p.Glu326_Pro327insHisThrGlyGlnAlaAsnArgAlaGluAsnG...