Canonical Allele Identifier: CA2612218728

Gene: CAVIN3

Linked Data

• gnomAD v4: 11-6318989-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6318989_6318990insA , CM000673.2:g.6318989_6318990insA	GRCh38
NC_000011.9:g.6340219_6340220insA , CM000673.1:g.6340219_6340220insA	GRCh37
NC_000011.8:g.6296795_6296796insA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.*173_*174insT MANE Select	ENSP00000307292.3:n.*173_*174insT
ENST00000303927.3:c.*173_*174insT	ENSP00000307292.3:n.*173_*174insT
ENST00000532354.1:n.981_982insT
NM_145040.2:c.*173_*174insT	NP_659477.2:n.*173_*174insT
XR_930997.1:n.720+769_720+770insA
NM_145040.3:c.*173_*174insT MANE Select	NP_659477.2:n.*173_*174insT