Canonical Allele Identifier: CA2612218893
Gene: CAVIN3 HGNC NCBI

Linked Data

gnomAD v4: 11-6319247-T-TGGCTCCAGCGTGGGCTCC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319248_6319265dup , CM000673.2:g.6319248_6319265dup GRCh38
NC_000011.9:g.6340478_6340495dup , CM000673.1:g.6340478_6340495dup GRCh37
NC_000011.8:g.6297054_6297071dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.684_701dup MANE Select ENSP00000307292.3:p.Pro234_Glu235insGluProThrLeuGluPro
ENST00000303927.3:c.684_701dup ENSP00000307292.3:p.Pro234_Glu235insGluProThrLeuGluPro
ENST00000524852.1:n.470_487dup
ENST00000530979.1:c.780_797dup ENSP00000432047.1:p.Pro266_Glu267insGluProThrLeuGluPro
ENST00000532354.1:n.706_723dup
NM_145040.2:c.684_701dup NP_659477.2:p.Pro234_Glu235insGluProThrLeuGluPro
XR_930997.1:n.720+1028_720+1045dup
XR_242848.4:n.108_125dup
NM_145040.3:c.684_701dup MANE Select NP_659477.2:p.Pro234_Glu235insGluProThrLeuGluPro
Search 100 bp 5'
Search 100 bp 3'