Canonical Allele Identifier: CA2612218904

Gene: CAVIN3

Linked Data

• gnomAD v4: 11-6319479-TGCTCTGGGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319480_6319488del , CM000673.2:g.6319480_6319488del	GRCh38
NC_000011.9:g.6340710_6340718del , CM000673.1:g.6340710_6340718del	GRCh37
NC_000011.8:g.6297286_6297294del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.461_469del MANE Select	ENSP00000307292.3:p.Gly154_Gln157delinsGlu
ENST00000303927.3:c.461_469del	ENSP00000307292.3:p.Gly154_Gln157delinsGlu
ENST00000524852.1:n.247_255del
ENST00000530979.1:c.557_565del	ENSP00000432047.1:p.Gly186_Gln189delinsGlu
ENST00000532354.1:n.483_491del
NM_145040.2:c.461_469del	NP_659477.2:p.Gly154_Gln157delinsGlu
XR_930997.1:n.720+1260_720+1268del
XR_001748106.1:n.91_99del
XR_242848.4:n.340_348del
NM_145040.3:c.461_469del MANE Select	NP_659477.2:p.Gly154_Gln157delinsGlu