Canonical Allele Identifier: CA599073627

Gene: RAPSN

Linked Data

• dbSNP Id: rs1565683838
• gnomAD v2: 11-47463116-GGGGAGTGCT-G
• gnomAD v4: 11-47441564-GGGGAGTGCT-G
• MyVariant Identifiers: chr11:g.47463117_47463125del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441570_47441578del , CM000673.2:g.47441570_47441578del	GRCh38
NC_000011.9:g.47463122_47463130del , CM000673.1:g.47463122_47463130del	GRCh37
NC_000011.8:g.47419698_47419706del	NCBI36
NG_008312.1:g.12606_12614del

Transcript Alleles

HGVS	Amino-acid change
ENST00000298854.7:c.912+38_912+46del MANE Select	ENSP00000298854.2:n.912+38_912+46del
ENST00000298854.6:c.912+38_912+46del	ENSP00000298854.2:n.912+38_912+46del
ENST00000352508.7:c.789+250_789+258del	ENSP00000298853.3:n.789+250_789+258del
ENST00000524487.5:c.753+38_753+46del	ENSP00000435551.2:n.753+38_753+46del
ENST00000528356.1:n.121+38_121+46del
ENST00000529341.1:c.789+250_789+258del	ENSP00000431732.1:n.789+250_789+258del
NM_005055.4:c.912+38_912+46del	NP_005046.2:n.912+38_912+46del
NM_032645.4:c.789+250_789+258del	NP_116034.2:n.789+250_789+258del
XM_005253042.2:c.912+38_912+46del	XP_005253099.1:n.912+38_912+46del
XM_005253043.2:c.789+250_789+258del	XP_005253100.1:n.789+250_789+258del
XM_011520252.1:c.912+38_912+46del	XP_011518554.1:n.912+38_912+46del
XM_011520253.1:c.912+38_912+46del	XP_011518555.1:n.912+38_912+46del
XM_005253042.3:c.912+38_912+46del	XP_005253099.1:n.912+38_912+46del
XM_005253043.3:c.789+250_789+258del	XP_005253100.1:n.789+250_789+258del
NM_005055.5:c.912+38_912+46del MANE Select	NP_005046.2:n.912+38_912+46del
NM_032645.5:c.789+250_789+258del	NP_116034.2:n.789+250_789+258del