Canonical Allele Identifier: CA645579421

Gene: RAPSN

Linked Data

• COSMIC: COSM5360416

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441650del , CM000673.2:g.47441650del	GRCh38
NC_000011.9:g.47463202del , CM000673.1:g.47463202del	GRCh37
NC_000011.8:g.47419778del	NCBI36
NG_008312.1:g.12529del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.873del MANE Select	ENSP00000298854.2:p.Val292TrpfsTer?
ENST00000298854.6:c.873del	ENSP00000298854.2:p.Val292TrpfsTer?
ENST00000352508.7:c.789+173del	ENSP00000298853.3:n.789+173del
ENST00000524487.5:c.714del	ENSP00000435551.2:p.Val239TrpfsTer?
ENST00000528356.1:n.82del
ENST00000529341.1:c.789+173del	ENSP00000431732.1:n.789+173del
NM_005055.4:c.873del	NP_005046.2:p.Val292TrpfsTer?
NM_032645.4:c.789+173del	NP_116034.2:n.789+173del
XM_005253042.2:c.873del	XP_005253099.1:p.Val292TrpfsTer14
XM_005253043.2:c.789+173del	XP_005253100.1:n.789+173del
XM_011520252.1:c.873del	XP_011518554.1:p.Val292TrpfsTer23
XM_011520253.1:c.873del	XP_011518555.1:p.Val292TrpfsTer?
XM_005253042.3:c.873del	XP_005253099.1:p.Val292TrpfsTer14
XM_005253043.3:c.789+173del	XP_005253100.1:n.789+173del
NM_005055.5:c.873del MANE Select	NP_005046.2:p.Val292TrpfsTer?
NM_032645.5:c.789+173del	NP_116034.2:n.789+173del