Canonical Allele Identifier: CA2613411535

Gene: RAPSN

Linked Data

• gnomAD v4: 11-47441670-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441674del , CM000673.2:g.47441674del	GRCh38
NC_000011.9:g.47463226del , CM000673.1:g.47463226del	GRCh37
NC_000011.8:g.47419802del	NCBI36
NG_008312.1:g.12508del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.852del MANE Select	ENSP00000298854.2:p.Gln285ArgfsTer?
ENST00000298854.6:c.852del	ENSP00000298854.2:p.Gln285ArgfsTer?
ENST00000352508.7:c.789+152del	ENSP00000298853.3:n.789+152del
ENST00000524487.5:c.693del	ENSP00000435551.2:p.Gln232ArgfsTer?
ENST00000528356.1:n.61del
ENST00000529341.1:c.789+152del	ENSP00000431732.1:n.789+152del
NM_005055.4:c.852del	NP_005046.2:p.Gln285ArgfsTer?
NM_032645.4:c.789+152del	NP_116034.2:n.789+152del
XM_005253042.2:c.852del	XP_005253099.1:p.Gln285ArgfsTer21
XM_005253043.2:c.789+152del	XP_005253100.1:n.789+152del
XM_011520252.1:c.852del	XP_011518554.1:p.Gln285ArgfsTer?
XM_011520253.1:c.852del	XP_011518555.1:p.Gln285ArgfsTer?
XM_005253042.3:c.852del	XP_005253099.1:p.Gln285ArgfsTer21
XM_005253043.3:c.789+152del	XP_005253100.1:n.789+152del
NM_005055.5:c.852del MANE Select	NP_005046.2:p.Gln285ArgfsTer?
NM_032645.5:c.789+152del	NP_116034.2:n.789+152del