Canonical Allele Identifier: CA2543222610

Gene: MAT1A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80280319_80280320insCTCGTGGATAGCGGAGAGTACGCCGCACGATTTGGCTTCAAATTGATATTCGCTTT , CM000672.2:g.80280319_80280320insCTCGTGGATAGCGGAGAGTACGCCGCACGATTTGGCTTCAAATTGATATTCGCTTT	GRCh38
NC_000010.10:g.82040075_82040076insCTCGTGGATAGCGGAGAGTACGCCGCACGATTTGGCTTCAAATTGATATTCGCTTT , CM000672.1:g.82040075_82040076insCTCGTGGATAGCGGAGAGTACGCCGCACGATTTGGCTTCAAATTGATATTCGCTTT	GRCh37
NC_000010.9:g.82030055_82030056insCTCGTGGATAGCGGAGAGTACGCCGCACGATTTGGCTTCAAATTGATATTCGCTTT	NCBI36
NG_008083.1:g.14359_14360insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.406-4_406-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAG MANE Select	ENSP00000361287.3:n.406-4_406-3insAAAGCGAATATCAATTTGAAGCCAAAT...
ENST00000372213.7:c.406-4_406-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAG	ENSP00000361287.3:n.406-4_406-3insAAAGCGAATATCAATTTGAAGCCAAAT...
ENST00000455001.1:c.217-4_217-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAG	ENSP00000414961.1:n.217-4_217-3insAAAGCGAATATCAATTTGAAGCCAAAT...
NM_000429.2:c.406-4_406-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAG	NP_000420.1:n.406-4_406-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCG...
XM_005269842.3:c.406-4_406-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAG	XP_005269899.1:n.406-4_406-3insAAAGCGAATATCAATTTGAAGCCAAATCGT...
XM_005269843.3:c.283-4_283-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAG	XP_005269900.1:n.283-4_283-3insAAAGCGAATATCAATTTGAAGCCAAATCGT...
NM_000429.3:c.406-4_406-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCGGCGTACTCTCCGCTATCCACGAG MANE Select	NP_000420.1:n.406-4_406-3insAAAGCGAATATCAATTTGAAGCCAAATCGTGCG...