Canonical Allele Identifier: CA1950112619
Gene: CAVIN3 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319351_6319370delinsCAGGGCCTTTCCGGCCCGAA , CM000673.2:g.6319351_6319370delinsCAGGGCCTTTCCGGCCCGAA GRCh38
NC_000011.9:g.6340581_6340600delinsCAGGGCCTTTCCGGCCCGAA , CM000673.1:g.6340581_6340600delinsCAGGGCCTTTCCGGCCCGAA GRCh37
NC_000011.8:g.6297157_6297176delinsCAGGGCCTTTCCGGCCCGAA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.579_598delinsTTCGGGCCGGAAAGGCCCTG MANE Select ENSP00000307292.3:p.Leu193=
ENST00000303927.3:c.579_598delinsTTCGGGCCGGAAAGGCCCTG ENSP00000307292.3:p.Leu193=
ENST00000524852.1:n.365_384delinsTTCGGGCCGGAAAGGCCCTG
ENST00000530979.1:c.675_694delinsTTCGGGCCGGAAAGGCCCTG ENSP00000432047.1:p.Leu225=
ENST00000532354.1:n.601_620delinsTTCGGGCCGGAAAGGCCCTG
NM_145040.2:c.579_598delinsTTCGGGCCGGAAAGGCCCTG NP_659477.2:p.Leu193=
XR_930997.1:n.720+1131_720+1150delinsCAGGGCCTTTCCGGCCCGAA
XR_242848.4:n.211_230delinsCAGGGCCTTTCCGGCCCGAA
NM_145040.3:c.579_598delinsTTCGGGCCGGAAAGGCCCTG MANE Select NP_659477.2:p.Leu193=
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