Canonical Allele Identifier: CA23896435
Gene: RAVER2 HGNC NCBI

Linked Data

dbSNP Id: rs3838402
gnomAD v2: 1-65298623-AAGTCAGTC-A
gnomAD v3: 1-64832940-AAGTCAGTC-A
gnomAD v4: 1-64832940-AAGTCAGTC-A
MyVariant Identifiers: chr1:g.65298624_65298631del (hg19) chr1:g.64832941_64832948del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.64832946_64832953del , CM000663.2:g.64832946_64832953del GRCh38
NC_000001.10:g.65298629_65298636del , CM000663.1:g.65298629_65298636del GRCh37
NC_000001.9:g.65071217_65071224del NCBI36
NG_023402.1:g.138557_138564del
NG_023402.2:g.239799_239806del

Transcript Alleles

HGVS Amino-acid change
ENST00000294428.8:c.*1961_*1968del MANE Select ENSP00000294428.3:n.*1961_*1968del
ENST00000294428.7:c.*1961_*1968del ENSP00000294428.3:n.*1961_*1968del
ENST00000371072.8:c.*1961_*1968del ENSP00000360112.4:n.*1961_*1968del
NM_018211.3:c.*1961_*1968del NP_060681.2:n.*1961_*1968del
XM_006710738.2:c.*1961_*1968del XP_006710801.2:n.*1961_*1968del
NM_001366165.1:c.*1961_*1968del NP_001353094.1:n.*1961_*1968del
XR_946693.3:n.4380_4387del
NM_018211.4:c.*1961_*1968del NP_060681.2:n.*1961_*1968del
NM_001366165.2:c.*1961_*1968del MANE Select NP_001353094.1:n.*1961_*1968del
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