Canonical Allele Identifier: CA2574817054
Gene: RAPSN HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000298854.7:c.*82del MANE Select ENSP00000298854.2:n.*82del
ENST00000298854.6:c.*82del ENSP00000298854.2:n.*82del
ENST00000352508.7:c.*82del ENSP00000298853.3:n.*82del
ENST00000524487.5:c.*82del ENSP00000435551.2:n.*82del
ENST00000528356.1:n.276del
NM_005055.4:c.*82del NP_005046.2:n.*82del
NM_032645.4:c.*82del NP_116034.2:n.*82del
XM_005253042.2:c.*82del XP_005253099.1:n.*82del
XM_005253043.2:c.*82del XP_005253100.1:n.*82del
XM_011520252.1:c.1406del XP_011518554.1:p.Gly469AlafsTer9
XM_011520253.1:c.*82del XP_011518555.1:n.*82del
XM_005253042.3:c.*82del XP_005253099.1:n.*82del
XM_005253043.3:c.*82del XP_005253100.1:n.*82del
NM_005055.5:c.*82del MANE Select NP_005046.2:n.*82del
NM_032645.5:c.*82del NP_116034.2:n.*82del