Canonical Allele Identifier: CA1950112763
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs1846784948

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319615del , CM000673.2:g.6319615del GRCh38
NC_000011.9:g.6340845del , CM000673.1:g.6340845del GRCh37
NC_000011.8:g.6297421del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.385-51del MANE Select ENSP00000307292.3:n.385-51del
ENST00000303927.3:c.385-51del ENSP00000307292.3:n.385-51del
ENST00000524852.1:n.120del
ENST00000530979.1:c.480+42del ENSP00000432047.1:n.480+42del
ENST00000532354.1:n.406+42del
NM_145040.2:c.385-51del NP_659477.2:n.385-51del
XR_242848.3:n.54del
XR_242849.3:n.54del
XR_428874.2:n.54del
XR_930992.1:n.54del
XR_930994.1:n.54del
XR_930995.1:n.54del
XR_930996.1:n.54del
XR_930997.1:n.720+1395del
XR_930998.1:n.54del
XR_930999.1:n.54del
XR_001748105.2:n.73del
XR_001748106.1:n.226del
XR_001748108.2:n.73del
XR_001748109.2:n.82del
XR_242848.4:n.475del
XR_930992.3:n.73del
XR_930994.3:n.73del
XR_930995.3:n.73del
XR_930998.3:n.73del
NM_145040.3:c.385-51del MANE Select NP_659477.2:n.385-51del