Canonical Allele Identifier: CA2527687608

Gene: MAT1A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80280312_80280313insTGCCTTGGTCGCCGGCGCCCTGGTTGT , CM000672.2:g.80280312_80280313insTGCCTTGGTCGCCGGCGCCCTGGTTGT	GRCh38
NC_000010.10:g.82040068_82040069insTGCCTTGGTCGCCGGCGCCCTGGTTGT , CM000672.1:g.82040068_82040069insTGCCTTGGTCGCCGGCGCCCTGGTTGT	GRCh37
NC_000010.9:g.82030048_82030049insTGCCTTGGTCGCCGGCGCCCTGGTTGT	NCBI36
NG_008083.1:g.14366_14367insACAACCAGGGCGCCGGCGACCAAGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.409_410insACAACCAGGGCGCCGGCGACCAAGGCA MANE Select	ENSP00000361287.3:p.Leu137delinsTyrAsnGlnGlyAlaGlyAspGlnGlyMe...
ENST00000372213.7:c.409_410insACAACCAGGGCGCCGGCGACCAAGGCA	ENSP00000361287.3:p.Leu137delinsTyrAsnGlnGlyAlaGlyAspGlnGlyMe...
ENST00000455001.1:c.220_221insACAACCAGGGCGCCGGCGACCAAGGCA	ENSP00000414961.1:p.Leu74delinsTyrAsnGlnGlyAlaGlyAspGlnGlyMet...
NM_000429.2:c.409_410insACAACCAGGGCGCCGGCGACCAAGGCA	NP_000420.1:p.Leu137delinsTyrAsnGlnGlyAlaGlyAspGlnGlyMet
XM_005269842.3:c.409_410insACAACCAGGGCGCCGGCGACCAAGGCA	XP_005269899.1:p.Leu137delinsTyrAsnGlnGlyAlaGlyAspGlnGlyMet
XM_005269843.3:c.286_287insACAACCAGGGCGCCGGCGACCAAGGCA	XP_005269900.1:p.Leu96delinsTyrAsnGlnGlyAlaGlyAspGlnGlyMet
NM_000429.3:c.409_410insACAACCAGGGCGCCGGCGACCAAGGCA MANE Select	NP_000420.1:p.Leu137delinsTyrAsnGlnGlyAlaGlyAspGlnGlyMet