Canonical Allele Identifier: CA2574738503
Gene: CAVIN3 HGNC NCBI

Linked Data

gnomAD v4: 11-6319271-AGGCTGGGCTTCC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319283_6319294del , CM000673.2:g.6319283_6319294del GRCh38
NC_000011.9:g.6340513_6340524del , CM000673.1:g.6340513_6340524del GRCh37
NC_000011.8:g.6297089_6297100del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.666_677del MANE Select ENSP00000307292.3:p.Glu223_Pro226del
ENST00000303927.3:c.666_677del ENSP00000307292.3:p.Glu223_Pro226del
ENST00000524852.1:n.452_463del
ENST00000530979.1:c.762_773del ENSP00000432047.1:p.Glu255_Pro258del
ENST00000532354.1:n.688_699del
NM_145040.2:c.666_677del NP_659477.2:p.Glu223_Pro226del
XR_930997.1:n.720+1063_720+1074del
XR_242848.4:n.143_154del
NM_145040.3:c.666_677del MANE Select NP_659477.2:p.Glu223_Pro226del
Search 100 bp 5'
Search 100 bp 3'