Canonical Allele Identifier: CA2613411825

Gene: RAPSN

Linked Data

• gnomAD v4: 11-47441721-T-TGG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441724_47441725dup , CM000673.2:g.47441724_47441725dup	GRCh38
NC_000011.9:g.47463276_47463277dup , CM000673.1:g.47463276_47463277dup	GRCh37
NC_000011.8:g.47419852_47419853dup	NCBI36
NG_008312.1:g.12456_12457dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.800_801dup MANE Select	ENSP00000298854.2:p.Arg268ProfsTer7
ENST00000298854.6:c.800_801dup	ENSP00000298854.2:p.Arg268ProfsTer7
ENST00000352508.7:c.789+100_789+101dup	ENSP00000298853.3:n.789+100_789+101dup
ENST00000524487.5:c.641_642dup	ENSP00000435551.2:p.Arg215ProfsTer7
ENST00000528356.1:n.9_10dup
ENST00000529341.1:c.789+100_789+101dup	ENSP00000431732.1:n.789+100_789+101dup
NM_005055.4:c.800_801dup	NP_005046.2:p.Arg268ProfsTer7
NM_032645.4:c.789+100_789+101dup	NP_116034.2:n.789+100_789+101dup
XM_005253042.2:c.800_801dup	XP_005253099.1:p.Arg268ProfsTer7
XM_005253043.2:c.789+100_789+101dup	XP_005253100.1:n.789+100_789+101dup
XM_011520252.1:c.800_801dup	XP_011518554.1:p.Arg268ProfsTer7
XM_011520253.1:c.800_801dup	XP_011518555.1:p.Arg268ProfsTer7
XM_005253042.3:c.800_801dup	XP_005253099.1:p.Arg268ProfsTer7
XM_005253043.3:c.789+100_789+101dup	XP_005253100.1:n.789+100_789+101dup
NM_005055.5:c.800_801dup MANE Select	NP_005046.2:p.Arg268ProfsTer7
NM_032645.5:c.789+100_789+101dup	NP_116034.2:n.789+100_789+101dup