Canonical Allele Identifier: CA217266145

Gene: CAVIN3

Linked Data

• dbSNP Id: rs767091423
• gnomAD v2: 11-6340878-AC-A
• gnomAD v3: 11-6319648-AC-A
• gnomAD v4: 11-6319648-AC-A
• MyVariant Identifiers: chr11:g.6340879del (hg19) ; chr11:g.6319649del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319650del , CM000673.2:g.6319650del	GRCh38
NC_000011.9:g.6340880del , CM000673.1:g.6340880del	GRCh37
NC_000011.8:g.6297456del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.385-85del MANE Select	ENSP00000307292.3:n.385-85del
ENST00000303927.3:c.385-85del	ENSP00000307292.3:n.385-85del
ENST00000524852.1:n.86del
ENST00000530979.1:c.480+8del	ENSP00000432047.1:n.480+8del
ENST00000532354.1:n.406+8del
NM_145040.2:c.385-85del	NP_659477.2:n.385-85del
XR_242848.3:n.89del
XR_242849.3:n.89del
XR_428874.2:n.89del
XR_930992.1:n.89del
XR_930994.1:n.89del
XR_930995.1:n.89del
XR_930996.1:n.89del
XR_930997.1:n.720+1430del
XR_930998.1:n.89del
XR_930999.1:n.89del
XR_001748105.2:n.108del
XR_001748106.1:n.261del
XR_001748108.2:n.108del
XR_001748109.2:n.117del
XR_242848.4:n.510del
XR_930992.3:n.108del
XR_930994.3:n.108del
XR_930995.3:n.108del
XR_930998.3:n.108del
NM_145040.3:c.385-85del MANE Select	NP_659477.2:n.385-85del