Canonical Allele Identifier: CA2574738513
Gene: CAVIN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319648_6319650del , CM000673.2:g.6319648_6319650del GRCh38
NC_000011.9:g.6340878_6340880del , CM000673.1:g.6340878_6340880del GRCh37
NC_000011.8:g.6297454_6297456del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.385-86_385-84del MANE Select ENSP00000307292.3:n.385-86_385-84del
ENST00000303927.3:c.385-86_385-84del ENSP00000307292.3:n.385-86_385-84del
ENST00000524852.1:n.85_87del
ENST00000530979.1:c.480+7_480+9del ENSP00000432047.1:n.480+7_480+9del
ENST00000532354.1:n.406+7_406+9del
NM_145040.2:c.385-86_385-84del NP_659477.2:n.385-86_385-84del
XR_242848.3:n.87_89del
XR_242849.3:n.87_89del
XR_428874.2:n.87_89del
XR_930992.1:n.87_89del
XR_930994.1:n.87_89del
XR_930995.1:n.87_89del
XR_930996.1:n.87_89del
XR_930997.1:n.720+1428_720+1430del
XR_930998.1:n.87_89del
XR_930999.1:n.87_89del
XR_001748105.2:n.106_108del
XR_001748106.1:n.259_261del
XR_001748108.2:n.106_108del
XR_001748109.2:n.115_117del
XR_242848.4:n.508_510del
XR_930992.3:n.106_108del
XR_930994.3:n.106_108del
XR_930995.3:n.106_108del
XR_930998.3:n.106_108del
NM_145040.3:c.385-86_385-84del MANE Select NP_659477.2:n.385-86_385-84del