Canonical Allele Identifier: CA2574817055
Gene: RAPSN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47437896dup , CM000673.2:g.47437896dup GRCh38
NC_000011.9:g.47459447dup , CM000673.1:g.47459447dup GRCh37
NC_000011.8:g.47416023dup NCBI36
NG_008312.1:g.16287dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000298854.7:c.*82dup MANE Select ENSP00000298854.2:n.*82dup
ENST00000298854.6:c.*82dup ENSP00000298854.2:n.*82dup
ENST00000352508.7:c.*82dup ENSP00000298853.3:n.*82dup
ENST00000524487.5:c.*82dup ENSP00000435551.2:n.*82dup
ENST00000528356.1:n.276dup
NM_005055.4:c.*82dup NP_005046.2:n.*82dup
NM_032645.4:c.*82dup NP_116034.2:n.*82dup
XM_005253042.2:c.*82dup XP_005253099.1:n.*82dup
XM_005253043.2:c.*82dup XP_005253100.1:n.*82dup
XM_011520252.1:c.1406dup XP_011518554.1:p.Ser470GlnfsTer?
XM_011520253.1:c.*82dup XP_011518555.1:n.*82dup
XM_005253042.3:c.*82dup XP_005253099.1:n.*82dup
XM_005253043.3:c.*82dup XP_005253100.1:n.*82dup
NM_005055.5:c.*82dup MANE Select NP_005046.2:n.*82dup
NM_032645.5:c.*82dup NP_116034.2:n.*82dup