Canonical Allele Identifier: CA1950112555
Gene: CAVIN3 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319247_6319259delinsTGGCTCCAGCGTG , CM000673.2:g.6319247_6319259delinsTGGCTCCAGCGTG GRCh38
NC_000011.9:g.6340477_6340489delinsTGGCTCCAGCGTG , CM000673.1:g.6340477_6340489delinsTGGCTCCAGCGTG GRCh37
NC_000011.8:g.6297053_6297065delinsTGGCTCCAGCGTG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.690_702delinsCACGCTGGAGCCA MANE Select ENSP00000307292.3:p.Pro230=
ENST00000303927.3:c.690_702delinsCACGCTGGAGCCA ENSP00000307292.3:p.Pro230=
ENST00000524852.1:n.476_488delinsCACGCTGGAGCCA
ENST00000530979.1:c.786_798delinsCACGCTGGAGCCA ENSP00000432047.1:p.Pro262=
ENST00000532354.1:n.712_724delinsCACGCTGGAGCCA
NM_145040.2:c.690_702delinsCACGCTGGAGCCA NP_659477.2:p.Pro230=
XR_930997.1:n.720+1027_720+1039delinsTGGCTCCAGCGTG
XR_242848.4:n.107_119delinsTGGCTCCAGCGTG
NM_145040.3:c.690_702delinsCACGCTGGAGCCA MANE Select NP_659477.2:p.Pro230=
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