Canonical Allele Identifier: CA2840245906
Gene: CAVIN3 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319339dup , CM000673.2:g.6319339dup GRCh38
NC_000011.9:g.6340569dup , CM000673.1:g.6340569dup GRCh37
NC_000011.8:g.6297145dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.612dup MANE Select ENSP00000307292.3:p.Thr205HisfsTer15
ENST00000303927.3:c.612dup ENSP00000307292.3:p.Thr205HisfsTer15
ENST00000524852.1:n.398dup
ENST00000530979.1:c.708dup ENSP00000432047.1:p.Thr237HisfsTer15
ENST00000532354.1:n.634dup
NM_145040.2:c.612dup NP_659477.2:p.Thr205HisfsTer15
XR_930997.1:n.720+1119dup
XR_242848.4:n.199dup
NM_145040.3:c.612dup MANE Select NP_659477.2:p.Thr205HisfsTer15
Search 100 bp 5'
Search 100 bp 3'