Canonical Allele Identifier: CA5852175
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs1491381905
ExAC: 11:6340399 TAC / T
gnomAD v2: 11-6340399-TAC-T
gnomAD v3: 11-6319169-TAC-T
gnomAD v4: 11-6319169-TAC-T
MyVariant Identifiers: chr11:g.6340400_6340401del (hg19) chr11:g.6319170_6319171del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319172_6319173del , CM000673.2:g.6319172_6319173del GRCh38
NC_000011.9:g.6340402_6340403del , CM000673.1:g.6340402_6340403del GRCh37
NC_000011.8:g.6296978_6296979del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.778_779del MANE Select ENSP00000307292.3:p.Val260SerfsTer29
ENST00000303927.3:c.778_779del ENSP00000307292.3:p.Val260SerfsTer29
ENST00000524852.1:n.564_565del
ENST00000530979.1:c.874_875del ENSP00000432047.1:p.Val292SerfsTer?
ENST00000532354.1:n.800_801del
NM_145040.2:c.778_779del NP_659477.2:p.Val260SerfsTer29
XR_930997.1:n.720+952_720+953del
XR_242848.4:n.32_33del
NM_145040.3:c.778_779del MANE Select NP_659477.2:p.Val260SerfsTer29
Search 100 bp 5'
Search 100 bp 3'