Canonical Allele Identifier: CA2664271856
Gene: CAV3 HGNC NCBI

Linked Data

gnomAD v4: 3-8745940-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745944del , CM000665.2:g.8745944del GRCh38
NC_000003.11:g.8787630del , CM000665.1:g.8787630del GRCh37
NC_000003.10:g.8762630del NCBI36
NG_008797.2:g.17135del , LRG_329:g.17135del

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.*77del MANE Select ENSP00000341940.2:n.*77del
ENST00000343849.2:c.*77del ENSP00000341940.2:n.*77del
ENST00000397368.2:c.*7-26del ENSP00000380525.2:n.*7-26del
ENST00000472766.1:n.155+11954del
NM_001234.4:c.*7-26del NP_001225.1:n.*7-26del
NM_033337.2:c.*77del , LRG_329t1:c.*77del NP_203123.1:n.*77del
NM_001234.5:c.*7-26del NP_001225.1:n.*7-26del
NM_033337.3:c.*77del MANE Select NP_203123.1:n.*77del
Search 100 bp 5'
Search 100 bp 3'