Canonical Allele Identifier: CA2407514285
Gene: SAMM50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43998573_43998574delinsAC , CM000684.2:g.43998573_43998574delinsAC GRCh38
NC_000022.10:g.44394453_44394454delinsAC , CM000684.1:g.44394453_44394454delinsAC GRCh37
NC_000022.9:g.42725786_42725787delinsAC NCBI36
NG_029743.1:g.4363_4364delinsAC
NG_029743.2:g.4363_4364delinsAC

Transcript Alleles

HGVS Amino-acid change
ENST00000465768.1:n.79+8167_79+8168delinsAC