Canonical Allele Identifier: CA2599352981

Gene: RAVER2

Linked Data

• gnomAD v3: 1-64832893-CAAACAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64832896_64832901del , CM000663.2:g.64832896_64832901del	GRCh38
NC_000001.10:g.65298579_65298584del , CM000663.1:g.65298579_65298584del	GRCh37
NC_000001.9:g.65071167_65071172del	NCBI36
NG_023402.1:g.138606_138611del
NG_023402.2:g.239848_239853del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294428.8:c.*1911_*1916del MANE Select	ENSP00000294428.3:n.*1911_*1916del
ENST00000294428.7:c.*1911_*1916del	ENSP00000294428.3:n.*1911_*1916del
ENST00000371072.8:c.*1911_*1916del	ENSP00000360112.4:n.*1911_*1916del
NM_018211.3:c.*1911_*1916del	NP_060681.2:n.*1911_*1916del
XM_006710738.2:c.*1911_*1916del	XP_006710801.2:n.*1911_*1916del
NM_001366165.1:c.*1911_*1916del	NP_001353094.1:n.*1911_*1916del
XR_946693.3:n.4330_4335del
NM_018211.4:c.*1911_*1916del	NP_060681.2:n.*1911_*1916del
NM_001366165.2:c.*1911_*1916del MANE Select	NP_001353094.1:n.*1911_*1916del