Canonical Allele Identifier: CA937663602

Gene: RAPSN

Linked Data

• dbSNP Id: rs2076363458
• gnomAD v3: 11-47441594-GA-G
• gnomAD v4: 11-47441594-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441597del , CM000673.2:g.47441597del	GRCh38
NC_000011.9:g.47463149del , CM000673.1:g.47463149del	GRCh37
NC_000011.8:g.47419725del	NCBI36
NG_008312.1:g.12584del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.912+16del MANE Select	ENSP00000298854.2:n.912+16del
ENST00000298854.6:c.912+16del	ENSP00000298854.2:n.912+16del
ENST00000352508.7:c.789+228del	ENSP00000298853.3:n.789+228del
ENST00000524487.5:c.753+16del	ENSP00000435551.2:n.753+16del
ENST00000528356.1:n.121+16del
ENST00000529341.1:c.789+228del	ENSP00000431732.1:n.789+228del
NM_005055.4:c.912+16del	NP_005046.2:n.912+16del
NM_032645.4:c.789+228del	NP_116034.2:n.789+228del
XM_005253042.2:c.912+16del	XP_005253099.1:n.912+16del
XM_005253043.2:c.789+228del	XP_005253100.1:n.789+228del
XM_011520252.1:c.912+16del	XP_011518554.1:n.912+16del
XM_011520253.1:c.912+16del	XP_011518555.1:n.912+16del
XM_005253042.3:c.912+16del	XP_005253099.1:n.912+16del
XM_005253043.3:c.789+228del	XP_005253100.1:n.789+228del
NM_005055.5:c.912+16del MANE Select	NP_005046.2:n.912+16del
NM_032645.5:c.789+228del	NP_116034.2:n.789+228del