Canonical Allele Identifier: CA2695201129

Gene: RAPSN

Linked Data

• ClinVar Variation Id: 2678226
• ClinVar RCV Id: RCV003471788

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47438008del , CM000673.2:g.47438008del	GRCh38
NC_000011.9:g.47459559del , CM000673.1:g.47459559del	GRCh37
NC_000011.8:g.47416135del	NCBI36
NG_008312.1:g.16173del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.1207del MANE Select	ENSP00000298854.2:p.Arg403AlafsTer5
ENST00000298854.6:c.1207del	ENSP00000298854.2:p.Arg403AlafsTer5
ENST00000352508.7:c.1030del	ENSP00000298853.3:p.Arg344AlafsTer5
ENST00000524487.5:c.1048del	ENSP00000435551.2:p.Arg350AlafsTer5
ENST00000528356.1:n.162del
NM_005055.4:c.1207del	NP_005046.2:p.Arg403AlafsTer5
NM_032645.4:c.1030del	NP_116034.2:p.Arg344AlafsTer5
XM_005253042.2:c.1153del	XP_005253099.1:p.Arg385AlafsTer5
XM_005253043.2:c.1084del	XP_005253100.1:p.Arg362AlafsTer5
XM_011520252.1:c.1292del	XP_011518554.1:p.Pro431ArgfsTer11
XM_011520253.1:c.1231del	XP_011518555.1:p.Arg411AlafsTer5
XM_005253042.3:c.1153del	XP_005253099.1:p.Arg385AlafsTer5
XM_005253043.3:c.1084del	XP_005253100.1:p.Arg362AlafsTer5
NM_005055.5:c.1207del MANE Select	NP_005046.2:p.Arg403AlafsTer5
NM_032645.5:c.1030del	NP_116034.2:p.Arg344AlafsTer5