Canonical Allele Identifier: CA2574817142

Gene: RAPSN

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441660_47441665dup , CM000673.2:g.47441660_47441665dup	GRCh38
NC_000011.9:g.47463212_47463217dup , CM000673.1:g.47463212_47463217dup	GRCh37
NC_000011.8:g.47419788_47419793dup	NCBI36
NG_008312.1:g.12516_12521dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.860_865dup MANE Select	ENSP00000298854.2:p.Ala288_Leu289insGlnAla
ENST00000298854.6:c.860_865dup	ENSP00000298854.2:p.Ala288_Leu289insGlnAla
ENST00000352508.7:c.789+160_789+165dup	ENSP00000298853.3:n.789+160_789+165dup
ENST00000524487.5:c.701_706dup	ENSP00000435551.2:p.Ala235_Leu236insGlnAla
ENST00000528356.1:n.69_74dup
ENST00000529341.1:c.789+160_789+165dup	ENSP00000431732.1:n.789+160_789+165dup
NM_005055.4:c.860_865dup	NP_005046.2:p.Ala288_Leu289insGlnAla
NM_032645.4:c.789+160_789+165dup	NP_116034.2:n.789+160_789+165dup
XM_005253042.2:c.860_865dup	XP_005253099.1:p.Ala288_Leu289insGlnAla
XM_005253043.2:c.789+160_789+165dup	XP_005253100.1:n.789+160_789+165dup
XM_011520252.1:c.860_865dup	XP_011518554.1:p.Ala288_Leu289insGlnAla
XM_011520253.1:c.860_865dup	XP_011518555.1:p.Ala288_Leu289insGlnAla
XM_005253042.3:c.860_865dup	XP_005253099.1:p.Ala288_Leu289insGlnAla
XM_005253043.3:c.789+160_789+165dup	XP_005253100.1:n.789+160_789+165dup
NM_005055.5:c.860_865dup MANE Select	NP_005046.2:p.Ala288_Leu289insGlnAla
NM_032645.5:c.789+160_789+165dup	NP_116034.2:n.789+160_789+165dup