Canonical Allele Identifier: CA2613411229

Gene: RAPSN

Linked Data

• gnomAD v4: 11-47441611-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441613del , CM000673.2:g.47441613del	GRCh38
NC_000011.9:g.47463165del , CM000673.1:g.47463165del	GRCh37
NC_000011.8:g.47419741del	NCBI36
NG_008312.1:g.12567del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.911del MANE Select	ENSP00000298854.2:p.Lys304ArgfsTer20
ENST00000298854.6:c.911del	ENSP00000298854.2:p.Lys304ArgfsTer20
ENST00000352508.7:c.789+211del	ENSP00000298853.3:n.789+211del
ENST00000524487.5:c.752del	ENSP00000435551.2:p.Lys251ArgfsTer20
ENST00000528356.1:n.120del
ENST00000529341.1:c.789+211del	ENSP00000431732.1:n.789+211del
NM_005055.4:c.911del	NP_005046.2:p.Lys304ArgfsTer20
NM_032645.4:c.789+211del	NP_116034.2:n.789+211del
XM_005253042.2:c.911del	XP_005253099.1:p.Lys304SerfsTer2
XM_005253043.2:c.789+211del	XP_005253100.1:n.789+211del
XM_011520252.1:c.911del	XP_011518554.1:p.Lys304ArgfsTer11
XM_011520253.1:c.911del	XP_011518555.1:p.Lys304SerfsTer28
XM_005253042.3:c.911del	XP_005253099.1:p.Lys304SerfsTer2
XM_005253043.3:c.789+211del	XP_005253100.1:n.789+211del
NM_005055.5:c.911del MANE Select	NP_005046.2:p.Lys304ArgfsTer20
NM_032645.5:c.789+211del	NP_116034.2:n.789+211del