Canonical Allele Identifier: CA2664271787
Gene: CAV3 HGNC NCBI

Linked Data

gnomAD v4: 3-8745875-TG-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745879del , CM000665.2:g.8745879del GRCh38
NC_000003.11:g.8787565del , CM000665.1:g.8787565del GRCh37
NC_000003.10:g.8762565del NCBI36
NG_008797.2:g.17070del , LRG_329:g.17070del

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.*12del MANE Select ENSP00000341940.2:n.*12del
ENST00000343849.2:c.*12del ENSP00000341940.2:n.*12del
ENST00000397368.2:c.*6+6del ENSP00000380525.2:n.*6+6del
ENST00000472766.1:n.155+11889del
NM_001234.4:c.*6+6del NP_001225.1:n.*6+6del
NM_033337.2:c.*12del , LRG_329t1:c.*12del NP_203123.1:n.*12del
NM_001234.5:c.*6+6del NP_001225.1:n.*6+6del
NM_033337.3:c.*12del MANE Select NP_203123.1:n.*12del