Canonical Allele Identifier: CA2989033944
Gene: CAV3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745498_8745500del , CM000665.2:g.8745498_8745500del GRCh38
NC_000003.11:g.8787184_8787186del , CM000665.1:g.8787184_8787186del GRCh37
NC_000003.10:g.8762184_8762186del NCBI36
NG_008797.2:g.16689_16691del , LRG_329:g.16689_16691del

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.115-28_115-26del MANE Select ENSP00000341940.2:n.115-28_115-26del
ENST00000343849.2:c.115-28_115-26del ENSP00000341940.2:n.115-28_115-26del
ENST00000397368.2:c.115-28_115-26del ENSP00000380525.2:n.115-28_115-26del
ENST00000472766.1:n.155+11508_155+11510del
NM_001234.4:c.115-28_115-26del NP_001225.1:n.115-28_115-26del
NM_033337.2:c.115-28_115-26del , LRG_329t1:c.115-28_115-26del NP_203123.1:n.115-28_115-26del
NM_001234.5:c.115-28_115-26del NP_001225.1:n.115-28_115-26del
NM_033337.3:c.115-28_115-26del MANE Select NP_203123.1:n.115-28_115-26del