Canonical Allele Identifier: CA2563483440
Gene: RAPSN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47448753_47448756del , CM000673.2:g.47448753_47448756del GRCh38
NC_000011.9:g.47470305_47470308del , CM000673.1:g.47470305_47470308del GRCh37
NC_000011.8:g.47426881_47426884del NCBI36
NG_008312.1:g.5423_5426del

Transcript Alleles

HGVS Amino-acid change
ENST00000298854.7:c.192+17_192+20del MANE Select ENSP00000298854.2:n.192+17_192+20del
ENST00000298854.6:c.192+17_192+20del ENSP00000298854.2:n.192+17_192+20del
ENST00000352508.7:c.192+17_192+20del ENSP00000298853.3:n.192+17_192+20del
ENST00000524487.5:c.192+17_192+20del ENSP00000435551.2:n.192+17_192+20del
ENST00000529341.1:c.192+17_192+20del ENSP00000431732.1:n.192+17_192+20del
NM_005055.4:c.192+17_192+20del NP_005046.2:n.192+17_192+20del
NM_032645.4:c.192+17_192+20del NP_116034.2:n.192+17_192+20del
XM_005253042.2:c.192+17_192+20del XP_005253099.1:n.192+17_192+20del
XM_005253043.2:c.192+17_192+20del XP_005253100.1:n.192+17_192+20del
XM_011520252.1:c.192+17_192+20del XP_011518554.1:n.192+17_192+20del
XM_011520253.1:c.192+17_192+20del XP_011518555.1:n.192+17_192+20del
XM_005253042.3:c.192+17_192+20del XP_005253099.1:n.192+17_192+20del
XM_005253043.3:c.192+17_192+20del XP_005253100.1:n.192+17_192+20del
NM_005055.5:c.192+17_192+20del MANE Select NP_005046.2:n.192+17_192+20del
NM_032645.5:c.192+17_192+20del NP_116034.2:n.192+17_192+20del