Canonical Allele Identifier: CA599374860

Gene: RAPSN

Linked Data

• ClinVar Variation Id: 2931303
• ClinVar RCV Id: RCV003782565
• dbSNP Id: rs1296641423
• gnomAD v2: 11-47463482-GA-G
• gnomAD v4: 11-47441930-GA-G
• MyVariant Identifiers: chr11:g.47463483del (hg19) ; chr11:g.47441931del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441931del , CM000673.2:g.47441931del	GRCh38
NC_000011.9:g.47463483del , CM000673.1:g.47463483del	GRCh37
NC_000011.8:g.47420059del	NCBI36
NG_008312.1:g.12248del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.691-10del MANE Select	ENSP00000298854.2:n.691-10del
ENST00000298854.6:c.691-10del	ENSP00000298854.2:n.691-10del
ENST00000352508.7:c.691-10del	ENSP00000298853.3:n.691-10del
ENST00000524487.5:c.532-10del	ENSP00000435551.2:n.532-10del
ENST00000529341.1:c.691-10del	ENSP00000431732.1:n.691-10del
NM_005055.4:c.691-10del	NP_005046.2:n.691-10del
NM_032645.4:c.691-10del	NP_116034.2:n.691-10del
XM_005253042.2:c.691-10del	XP_005253099.1:n.691-10del
XM_005253043.2:c.691-10del	XP_005253100.1:n.691-10del
XM_011520252.1:c.691-10del	XP_011518554.1:n.691-10del
XM_011520253.1:c.691-10del	XP_011518555.1:n.691-10del
XM_005253042.3:c.691-10del	XP_005253099.1:n.691-10del
XM_005253043.3:c.691-10del	XP_005253100.1:n.691-10del
NM_005055.5:c.691-10del MANE Select	NP_005046.2:n.691-10del
NM_032645.5:c.691-10del	NP_116034.2:n.691-10del