Canonical Allele Identifier: CA1922576881
Gene: MAT1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273569_80273572delinsGCCC , CM000672.2:g.80273569_80273572delinsGCCC GRCh38
NC_000010.10:g.82033325_82033328delinsGCCC , CM000672.1:g.82033325_82033328delinsGCCC GRCh37
NC_000010.9:g.82023305_82023308delinsGCCC NCBI36
NG_008083.1:g.21107_21110delinsGGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.*209_*212delinsGGGC MANE Select ENSP00000361287.3:n.*209_*212delinsGGGC
ENST00000372213.7:c.*209_*212delinsGGGC ENSP00000361287.3:n.*209_*212delinsGGGC
ENST00000480845.1:n.620+9_620+12delinsGGGC
ENST00000485270.5:n.909_912delinsGGGC
NM_000429.2:c.*209_*212delinsGGGC NP_000420.1:n.*209_*212delinsGGGC
XM_005269842.3:c.*209_*212delinsGGGC XP_005269899.1:n.*209_*212delinsGGGC
XM_005269843.3:c.*209_*212delinsGGGC XP_005269900.1:n.*209_*212delinsGGGC
NM_000429.3:c.*209_*212delinsGGGC MANE Select NP_000420.1:n.*209_*212delinsGGGC