Canonical Allele Identifier: CA2612219034

Gene: CAVIN3

Linked Data

• gnomAD v4: 11-6319738-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319740_6319741del , CM000673.2:g.6319740_6319741del	GRCh38
NC_000011.9:g.6340970_6340971del , CM000673.1:g.6340970_6340971del	GRCh37
NC_000011.8:g.6297546_6297547del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.385-176_385-175del MANE Select	ENSP00000307292.3:n.385-176_385-175del
ENST00000303927.3:c.385-176_385-175del	ENSP00000307292.3:n.385-176_385-175del
ENST00000524852.1:n.64-69_64-68del
ENST00000530979.1:c.397_398del	ENSP00000432047.1:p.Leu133ThrfsTer?
ENST00000532354.1:n.323_324del
NM_145040.2:c.385-176_385-175del	NP_659477.2:n.385-176_385-175del
XR_242848.3:n.136+43_136+44del
XR_242849.3:n.136+43_136+44del
XR_428874.2:n.136+43_136+44del
XR_930992.1:n.136+43_136+44del
XR_930994.1:n.136+43_136+44del
XR_930995.1:n.136+43_136+44del
XR_930996.1:n.136+43_136+44del
XR_930997.1:n.720+1520_720+1521del
XR_930998.1:n.136+43_136+44del
XR_930999.1:n.136+43_136+44del
XR_001748105.2:n.155+43_155+44del
XR_001748106.1:n.308+43_308+44del
XR_001748108.2:n.155+43_155+44del
XR_001748109.2:n.164+43_164+44del
XR_242848.4:n.557+43_557+44del
XR_930992.3:n.155+43_155+44del
XR_930994.3:n.155+43_155+44del
XR_930995.3:n.155+43_155+44del
XR_930998.3:n.155+43_155+44del
NM_145040.3:c.385-176_385-175del MANE Select	NP_659477.2:n.385-176_385-175del