Canonical Allele Identifier: CA2499221050

Gene: RAPSN

Linked Data

• ClinVar Variation Id: 1066353
• ClinVar RCV Id: RCV001377328
• dbSNP Id: rs2153308410

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441610_47441612dup , CM000673.2:g.47441610_47441612dup	GRCh38
NC_000011.9:g.47463162_47463164dup , CM000673.1:g.47463162_47463164dup	GRCh37
NC_000011.8:g.47419738_47419740dup	NCBI36
NG_008312.1:g.12567_12569dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.911_912+1dup
ENST00000298854.6:c.911_912+1dup
ENST00000352508.7:c.789+211_789+213dup	ENSP00000298853.3:n.789+211_789+213dup
ENST00000524487.5:c.752_753+1dup
ENST00000528356.1:n.120_121+1dup
ENST00000529341.1:c.789+211_789+213dup	ENSP00000431732.1:n.789+211_789+213dup
NM_005055.4:c.911_912+1dup
NM_032645.4:c.789+211_789+213dup	NP_116034.2:n.789+211_789+213dup
XM_005253042.2:c.911_912+1dup
XM_005253043.2:c.789+211_789+213dup	XP_005253100.1:n.789+211_789+213dup
XM_011520252.1:c.911_912+1dup
XM_011520253.1:c.911_912+1dup
XM_005253042.3:c.911_912+1dup
XM_005253043.3:c.789+211_789+213dup	XP_005253100.1:n.789+211_789+213dup
NM_005055.5:c.911_912+1dup
NM_032645.5:c.789+211_789+213dup	NP_116034.2:n.789+211_789+213dup