Canonical Allele Identifier: CA2407514278
Gene: SAMM50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43998549_43998552delinsTTCA , CM000684.2:g.43998549_43998552delinsTTCA GRCh38
NC_000022.10:g.44394429_44394432delinsTTCA , CM000684.1:g.44394429_44394432delinsTTCA GRCh37
NC_000022.9:g.42725762_42725765delinsTTCA NCBI36
NG_029743.1:g.4339_4342delinsTTCA
NG_029743.2:g.4339_4342delinsTTCA

Transcript Alleles

HGVS Amino-acid change
ENST00000465768.1:n.79+8143_79+8146delinsTTCA