Canonical Allele Identifier: CA2646050180
Gene: RAVER2 HGNC NCBI

Linked Data

gnomAD v4: 1-64832942-GTC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.64832943_64832944del , CM000663.2:g.64832943_64832944del GRCh38
NC_000001.10:g.65298626_65298627del , CM000663.1:g.65298626_65298627del GRCh37
NC_000001.9:g.65071214_65071215del NCBI36
NG_023402.1:g.138561_138562del
NG_023402.2:g.239803_239804del

Transcript Alleles

HGVS Amino-acid change
ENST00000294428.8:c.*1958_*1959del MANE Select ENSP00000294428.3:n.*1958_*1959del
ENST00000294428.7:c.*1958_*1959del ENSP00000294428.3:n.*1958_*1959del
ENST00000371072.8:c.*1958_*1959del ENSP00000360112.4:n.*1958_*1959del
NM_018211.3:c.*1958_*1959del NP_060681.2:n.*1958_*1959del
XM_006710738.2:c.*1958_*1959del XP_006710801.2:n.*1958_*1959del
NM_001366165.1:c.*1958_*1959del NP_001353094.1:n.*1958_*1959del
XR_946693.3:n.4377_4378del
NM_018211.4:c.*1958_*1959del NP_060681.2:n.*1958_*1959del
NM_001366165.2:c.*1958_*1959del MANE Select NP_001353094.1:n.*1958_*1959del
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