Canonical Allele Identifier: CA2612218744
Gene: CAVIN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6318998_6318999insT , CM000673.2:g.6318998_6318999insT GRCh38
NC_000011.9:g.6340228_6340229insT , CM000673.1:g.6340228_6340229insT GRCh37
NC_000011.8:g.6296804_6296805insT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.*164_*165insA MANE Select ENSP00000307292.3:n.*164_*165insA
ENST00000303927.3:c.*164_*165insA ENSP00000307292.3:n.*164_*165insA
ENST00000532354.1:n.972_973insA
NM_145040.2:c.*164_*165insA NP_659477.2:n.*164_*165insA
XR_930997.1:n.720+778_720+779insT
NM_145040.3:c.*164_*165insA MANE Select NP_659477.2:n.*164_*165insA