Canonical Allele Identifier: CA2613404856

Gene: RAPSN

Linked Data

• gnomAD v4: 11-47442043-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47442044dup , CM000673.2:g.47442044dup	GRCh38
NC_000011.9:g.47463596dup , CM000673.1:g.47463596dup	GRCh37
NC_000011.8:g.47420172dup	NCBI36
NG_008312.1:g.12135dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.691-123dup MANE Select	ENSP00000298854.2:n.691-123dup
ENST00000298854.6:c.691-123dup	ENSP00000298854.2:n.691-123dup
ENST00000352508.7:c.691-123dup	ENSP00000298853.3:n.691-123dup
ENST00000524487.5:c.532-123dup	ENSP00000435551.2:n.532-123dup
ENST00000529341.1:c.691-123dup	ENSP00000431732.1:n.691-123dup
NM_005055.4:c.691-123dup	NP_005046.2:n.691-123dup
NM_032645.4:c.691-123dup	NP_116034.2:n.691-123dup
XM_005253042.2:c.691-123dup	XP_005253099.1:n.691-123dup
XM_005253043.2:c.691-123dup	XP_005253100.1:n.691-123dup
XM_011520252.1:c.691-123dup	XP_011518554.1:n.691-123dup
XM_011520253.1:c.691-123dup	XP_011518555.1:n.691-123dup
XM_005253042.3:c.691-123dup	XP_005253099.1:n.691-123dup
XM_005253043.3:c.691-123dup	XP_005253100.1:n.691-123dup
NM_005055.5:c.691-123dup MANE Select	NP_005046.2:n.691-123dup
NM_032645.5:c.691-123dup	NP_116034.2:n.691-123dup