Canonical Allele Identifier: CA2612218894

Gene: CAVIN3

Linked Data

• gnomAD v4: 11-6319281-TCCGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319283_6319286del , CM000673.2:g.6319283_6319286del	GRCh38
NC_000011.9:g.6340513_6340516del , CM000673.1:g.6340513_6340516del	GRCh37
NC_000011.8:g.6297089_6297092del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.664_667del MANE Select	ENSP00000307292.3:p.Pro222LysfsTer?
ENST00000303927.3:c.664_667del	ENSP00000307292.3:p.Pro222LysfsTer?
ENST00000524852.1:n.450_453del
ENST00000530979.1:c.760_763del	ENSP00000432047.1:p.Pro254LysfsTer?
ENST00000532354.1:n.686_689del
NM_145040.2:c.664_667del	NP_659477.2:p.Pro222LysfsTer?
XR_930997.1:n.720+1063_720+1066del
XR_242848.4:n.143_146del
NM_145040.3:c.664_667del MANE Select	NP_659477.2:p.Pro222LysfsTer?