Canonical Allele Identifier: CA1922573756

Gene: MAT1A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80275378_80275431delinsTGACAACATATTGAAAACAGGTAACCTGCCAAAGCTTCATTAGCAAGTGCAGAA , CM000672.2:g.80275378_80275431delinsTGACAACATATTGAAAACAGGTAACCTGCCAAAGCTTCATTAGCAAGTGCAGAA	GRCh38
NC_000010.10:g.82035134_82035187delinsTGACAACATATTGAAAACAGGTAACCTGCCAAAGCTTCATTAGCAAGTGCAGAA , CM000672.1:g.82035134_82035187delinsTGACAACATATTGAAAACAGGTAACCTGCCAAAGCTTCATTAGCAAGTGCAGAA	GRCh37
NC_000010.9:g.82025114_82025167delinsTGACAACATATTGAAAACAGGTAACCTGCCAAAGCTTCATTAGCAAGTGCAGAA	NCBI36
NG_008083.1:g.19248_19301delinsTTCTGCACTTGCTAATGAAGCTTTGGCAGGTTACCTGTTTTCAATATGTTGTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.769-232_769-179delinsTTCTGCACTTGCTAATGAAGCTTTGGCAGGTTACCTGTTTTCAATATGTTGTCA MANE Select	ENSP00000361287.3:n.769-232_769-179delinsTTCTGCACTTGCTAATGAAG...
ENST00000372213.7:c.769-232_769-179delinsTTCTGCACTTGCTAATGAAGCTTTGGCAGGTTACCTGTTTTCAATATGTTGTCA	ENSP00000361287.3:n.769-232_769-179delinsTTCTGCACTTGCTAATGAAG...
ENST00000485270.5:n.49_102delinsTTCTGCACTTGCTAATGAAGCTTTGGCAGGTTACCTGTTTTCAATATGTTGTCA
NM_000429.2:c.769-232_769-179delinsTTCTGCACTTGCTAATGAAGCTTTGGCAGGTTACCTGTTTTCAATATGTTGTCA	NP_000420.1:n.769-232_769-179delinsTTCTGCACTTGCTAATGAAGCTTTGG...
XM_005269842.3:c.769-232_769-179delinsTTCTGCACTTGCTAATGAAGCTTTGGCAGGTTACCTGTTTTCAATATGTTGTCA	XP_005269899.1:n.769-232_769-179delinsTTCTGCACTTGCTAATGAAGCTT...
XM_005269843.3:c.646-232_646-179delinsTTCTGCACTTGCTAATGAAGCTTTGGCAGGTTACCTGTTTTCAATATGTTGTCA	XP_005269900.1:n.646-232_646-179delinsTTCTGCACTTGCTAATGAAGCTT...
NM_000429.3:c.769-232_769-179delinsTTCTGCACTTGCTAATGAAGCTTTGGCAGGTTACCTGTTTTCAATATGTTGTCA MANE Select	NP_000420.1:n.769-232_769-179delinsTTCTGCACTTGCTAATGAAGCTTTGG...