Canonical Allele Identifier: CA2527938009
Gene: RAPSN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47441798_47441800del , CM000673.2:g.47441798_47441800del GRCh38
NC_000011.9:g.47463350_47463352del , CM000673.1:g.47463350_47463352del GRCh37
NC_000011.8:g.47419926_47419928del NCBI36
NG_008312.1:g.12380_12382del

Transcript Alleles

HGVS Amino-acid Change
ENST00000298854.7:c.789+24_789+26del MANE Select ENSP00000298854.2:n.789+24_789+26del
ENST00000298854.6:c.789+24_789+26del ENSP00000298854.2:n.789+24_789+26del
ENST00000352508.7:c.789+24_789+26del ENSP00000298853.3:n.789+24_789+26del
ENST00000524487.5:c.630+24_630+26del ENSP00000435551.2:n.630+24_630+26del
ENST00000529341.1:c.789+24_789+26del ENSP00000431732.1:n.789+24_789+26del
NM_005055.4:c.789+24_789+26del NP_005046.2:n.789+24_789+26del
NM_032645.4:c.789+24_789+26del NP_116034.2:n.789+24_789+26del
XM_005253042.2:c.789+24_789+26del XP_005253099.1:n.789+24_789+26del
XM_005253043.2:c.789+24_789+26del XP_005253100.1:n.789+24_789+26del
XM_011520252.1:c.789+24_789+26del XP_011518554.1:n.789+24_789+26del
XM_011520253.1:c.789+24_789+26del XP_011518555.1:n.789+24_789+26del
XM_005253042.3:c.789+24_789+26del XP_005253099.1:n.789+24_789+26del
XM_005253043.3:c.789+24_789+26del XP_005253100.1:n.789+24_789+26del
NM_005055.5:c.789+24_789+26del MANE Select NP_005046.2:n.789+24_789+26del
NM_032645.5:c.789+24_789+26del NP_116034.2:n.789+24_789+26del