Canonical Allele Identifier: CA937663907

Gene: RAPSN

Linked Data

• dbSNP Id: rs2076368927
• gnomAD v3: 11-47441924-GCGAGGGAGGCCAGTGGCTCAGGCCTA-G
• gnomAD v4: 11-47441924-GCGAGGGAGGCCAGTGGCTCAGGCCTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441926_47441951del , CM000673.2:g.47441926_47441951del	GRCh38
NC_000011.9:g.47463478_47463503del , CM000673.1:g.47463478_47463503del	GRCh37
NC_000011.8:g.47420054_47420079del	NCBI36
NG_008312.1:g.12229_12254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.691-29_691-4del MANE Select	ENSP00000298854.2:n.691-29_691-4del
ENST00000298854.6:c.691-29_691-4del	ENSP00000298854.2:n.691-29_691-4del
ENST00000352508.7:c.691-29_691-4del	ENSP00000298853.3:n.691-29_691-4del
ENST00000524487.5:c.532-29_532-4del	ENSP00000435551.2:n.532-29_532-4del
ENST00000529341.1:c.691-29_691-4del	ENSP00000431732.1:n.691-29_691-4del
NM_005055.4:c.691-29_691-4del	NP_005046.2:n.691-29_691-4del
NM_032645.4:c.691-29_691-4del	NP_116034.2:n.691-29_691-4del
XM_005253042.2:c.691-29_691-4del	XP_005253099.1:n.691-29_691-4del
XM_005253043.2:c.691-29_691-4del	XP_005253100.1:n.691-29_691-4del
XM_011520252.1:c.691-29_691-4del	XP_011518554.1:n.691-29_691-4del
XM_011520253.1:c.691-29_691-4del	XP_011518555.1:n.691-29_691-4del
XM_005253042.3:c.691-29_691-4del	XP_005253099.1:n.691-29_691-4del
XM_005253043.3:c.691-29_691-4del	XP_005253100.1:n.691-29_691-4del
NM_005055.5:c.691-29_691-4del MANE Select	NP_005046.2:n.691-29_691-4del
NM_032645.5:c.691-29_691-4del	NP_116034.2:n.691-29_691-4del