Canonical Allele Identifier: CA2788703047
Gene: MAT1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273429_80273430insCTGTG , CM000672.2:g.80273429_80273430insCTGTG GRCh38
NC_000010.10:g.82033185_82033186insCTGTG , CM000672.1:g.82033185_82033186insCTGTG GRCh37
NC_000010.9:g.82023165_82023166insCTGTG NCBI36
NG_008083.1:g.21249_21250insCACAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.*351_*352insCACAG MANE Select ENSP00000361287.3:n.*351_*352insCACAG
ENST00000372213.7:c.*351_*352insCACAG ENSP00000361287.3:n.*351_*352insCACAG
ENST00000480845.1:n.620+151_620+152insCACAG
ENST00000485270.5:n.1051_1052insCACAG
NM_000429.2:c.*351_*352insCACAG NP_000420.1:n.*351_*352insCACAG
XM_005269842.3:c.*351_*352insCACAG XP_005269899.1:n.*351_*352insCACAG
XM_005269843.3:c.*351_*352insCACAG XP_005269900.1:n.*351_*352insCACAG
NM_000429.3:c.*351_*352insCACAG MANE Select NP_000420.1:n.*351_*352insCACAG