Canonical Allele Identifier: CA599374798

Gene: RAPSN

Linked Data

• dbSNP Id: rs1198761470
• gnomAD v2: 11-47463335-CTG-C
• gnomAD v3: 11-47441783-CTG-C
• gnomAD v4: 11-47441783-CTG-C
• MyVariant Identifiers: chr11:g.47463336_47463337del (hg19) ; chr11:g.47441784_47441785del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441784_47441785del , CM000673.2:g.47441784_47441785del	GRCh38
NC_000011.9:g.47463336_47463337del , CM000673.1:g.47463336_47463337del	GRCh37
NC_000011.8:g.47419912_47419913del	NCBI36
NG_008312.1:g.12394_12395del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.789+38_789+39del MANE Select	ENSP00000298854.2:n.789+38_789+39del
ENST00000298854.6:c.789+38_789+39del	ENSP00000298854.2:n.789+38_789+39del
ENST00000352508.7:c.789+38_789+39del	ENSP00000298853.3:n.789+38_789+39del
ENST00000524487.5:c.630+38_630+39del	ENSP00000435551.2:n.630+38_630+39del
ENST00000529341.1:c.789+38_789+39del	ENSP00000431732.1:n.789+38_789+39del
NM_005055.4:c.789+38_789+39del	NP_005046.2:n.789+38_789+39del
NM_032645.4:c.789+38_789+39del	NP_116034.2:n.789+38_789+39del
XM_005253042.2:c.789+38_789+39del	XP_005253099.1:n.789+38_789+39del
XM_005253043.2:c.789+38_789+39del	XP_005253100.1:n.789+38_789+39del
XM_011520252.1:c.789+38_789+39del	XP_011518554.1:n.789+38_789+39del
XM_011520253.1:c.789+38_789+39del	XP_011518555.1:n.789+38_789+39del
XM_005253042.3:c.789+38_789+39del	XP_005253099.1:n.789+38_789+39del
XM_005253043.3:c.789+38_789+39del	XP_005253100.1:n.789+38_789+39del
NM_005055.5:c.789+38_789+39del MANE Select	NP_005046.2:n.789+38_789+39del
NM_032645.5:c.789+38_789+39del	NP_116034.2:n.789+38_789+39del