Canonical Allele Identifier: CA2574817061

Gene: RAPSN

Linked Data

• gnomAD v4: 11-47437932-GAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47437935_47437937del , CM000673.2:g.47437935_47437937del	GRCh38
NC_000011.9:g.47459486_47459488del , CM000673.1:g.47459486_47459488del	GRCh37
NC_000011.8:g.47416062_47416064del	NCBI36
NG_008312.1:g.16245_16247del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.*40_*42del MANE Select	ENSP00000298854.2:n.*40_*42del
ENST00000298854.6:c.*40_*42del	ENSP00000298854.2:n.*40_*42del
ENST00000352508.7:c.*40_*42del	ENSP00000298853.3:n.*40_*42del
ENST00000524487.5:c.*40_*42del	ENSP00000435551.2:n.*40_*42del
ENST00000528356.1:n.234_236del
NM_005055.4:c.*40_*42del	NP_005046.2:n.*40_*42del
NM_032645.4:c.*40_*42del	NP_116034.2:n.*40_*42del
XM_005253042.2:c.*40_*42del	XP_005253099.1:n.*40_*42del
XM_005253043.2:c.*40_*42del	XP_005253100.1:n.*40_*42del
XM_011520252.1:c.1364_1366del	XP_011518554.1:p.Cys455del
XM_011520253.1:c.*40_*42del	XP_011518555.1:n.*40_*42del
XM_005253042.3:c.*40_*42del	XP_005253099.1:n.*40_*42del
XM_005253043.3:c.*40_*42del	XP_005253100.1:n.*40_*42del
NM_005055.5:c.*40_*42del MANE Select	NP_005046.2:n.*40_*42del
NM_032645.5:c.*40_*42del	NP_116034.2:n.*40_*42del