Canonical Allele Identifier: CA2646050173

Gene: RAVER2

Linked Data

• gnomAD v4: 1-64832939-AAAGTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.64832941_64832945del , CM000663.2:g.64832941_64832945del	GRCh38
NC_000001.10:g.65298624_65298628del , CM000663.1:g.65298624_65298628del	GRCh37
NC_000001.9:g.65071212_65071216del	NCBI36
NG_023402.1:g.138561_138565del
NG_023402.2:g.239803_239807del

Transcript Alleles

HGVS	Amino-acid change
ENST00000294428.8:c.*1956_*1960del MANE Select	ENSP00000294428.3:n.*1956_*1960del
ENST00000294428.7:c.*1956_*1960del	ENSP00000294428.3:n.*1956_*1960del
ENST00000371072.8:c.*1956_*1960del	ENSP00000360112.4:n.*1956_*1960del
NM_018211.3:c.*1956_*1960del	NP_060681.2:n.*1956_*1960del
XM_006710738.2:c.*1956_*1960del	XP_006710801.2:n.*1956_*1960del
NM_001366165.1:c.*1956_*1960del	NP_001353094.1:n.*1956_*1960del
XR_946693.3:n.4375_4379del
NM_018211.4:c.*1956_*1960del	NP_060681.2:n.*1956_*1960del
NM_001366165.2:c.*1956_*1960del MANE Select	NP_001353094.1:n.*1956_*1960del