Canonical Allele Identifier: CA918872845
Gene: RAPSN HGNC NCBI

Linked Data

dbSNP Id: rs1565681115

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47437948del , CM000673.2:g.47437948del GRCh38
NC_000011.9:g.47459499del , CM000673.1:g.47459499del GRCh37
NC_000011.8:g.47416075del NCBI36
NG_008312.1:g.16233del

Transcript Alleles

HGVS Amino-acid Change
ENST00000298854.7:c.*28del MANE Select ENSP00000298854.2:n.*28del
ENST00000298854.6:c.*28del ENSP00000298854.2:n.*28del
ENST00000352508.7:c.*28del ENSP00000298853.3:n.*28del
ENST00000524487.5:c.*28del ENSP00000435551.2:n.*28del
ENST00000528356.1:n.222del
NM_005055.4:c.*28del NP_005046.2:n.*28del
NM_032645.4:c.*28del NP_116034.2:n.*28del
XM_005253042.2:c.*28del XP_005253099.1:n.*28del
XM_005253043.2:c.*28del XP_005253100.1:n.*28del
XM_011520252.1:c.1352del XP_011518554.1:p.Pro451LeufsTer27
XM_011520253.1:c.*28del XP_011518555.1:n.*28del
XM_005253042.3:c.*28del XP_005253099.1:n.*28del
XM_005253043.3:c.*28del XP_005253100.1:n.*28del
NM_005055.5:c.*28del MANE Select NP_005046.2:n.*28del
NM_032645.5:c.*28del NP_116034.2:n.*28del