Canonical Allele Identifier: CA2664271887

Gene: CAV3

Linked Data

• gnomAD v4: 3-8745977-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745979del , CM000665.2:g.8745979del	GRCh38
NC_000003.11:g.8787665del , CM000665.1:g.8787665del	GRCh37
NC_000003.10:g.8762665del	NCBI36
NG_008797.2:g.17170del , LRG_329:g.17170del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.*112del MANE Select	ENSP00000341940.2:n.*112del
ENST00000343849.2:c.*112del	ENSP00000341940.2:n.*112del
ENST00000397368.2:c.*16del	ENSP00000380525.2:n.*16del
ENST00000472766.1:n.155+11989del
NM_001234.4:c.*16del	NP_001225.1:n.*16del
NM_033337.2:c.*112del , LRG_329t1:c.*112del	NP_203123.1:n.*112del
NM_001234.5:c.*16del	NP_001225.1:n.*16del
NM_033337.3:c.*112del MANE Select	NP_203123.1:n.*112del