Canonical Allele Identifier: CA1950112694
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs1846779993

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319488_6319491dup , CM000673.2:g.6319488_6319491dup GRCh38
NC_000011.9:g.6340718_6340721dup , CM000673.1:g.6340718_6340721dup GRCh37
NC_000011.8:g.6297294_6297297dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.458_461dup MANE Select ENSP00000307292.3:p.Pro155GlyfsTer?
ENST00000303927.3:c.458_461dup ENSP00000307292.3:p.Pro155GlyfsTer?
ENST00000524852.1:n.244_247dup
ENST00000530979.1:c.554_557dup ENSP00000432047.1:p.Pro187GlyfsTer?
ENST00000532354.1:n.480_483dup
NM_145040.2:c.458_461dup NP_659477.2:p.Pro155GlyfsTer?
XR_930997.1:n.720+1268_720+1271dup
XR_001748106.1:n.99_102dup
XR_242848.4:n.348_351dup
NM_145040.3:c.458_461dup MANE Select NP_659477.2:p.Pro155GlyfsTer?