Canonical Allele Identifier: CA2664271893

Gene: CAV3

Linked Data

• gnomAD v4: 3-8745981-TACCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745982_8745985del , CM000665.2:g.8745982_8745985del	GRCh38
NC_000003.11:g.8787668_8787671del , CM000665.1:g.8787668_8787671del	GRCh37
NC_000003.10:g.8762668_8762671del	NCBI36
NG_008797.2:g.17173_17176del , LRG_329:g.17173_17176del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.*115_*118del MANE Select	ENSP00000341940.2:n.*115_*118del
ENST00000343849.2:c.*115_*118del	ENSP00000341940.2:n.*115_*118del
ENST00000397368.2:c.*19_*22del	ENSP00000380525.2:n.*19_*22del
ENST00000472766.1:n.155+11992_155+11995del
NM_001234.4:c.*19_*22del	NP_001225.1:n.*19_*22del
NM_033337.2:c.*115_*118del , LRG_329t1:c.*115_*118del	NP_203123.1:n.*115_*118del
NM_001234.5:c.*19_*22del	NP_001225.1:n.*19_*22del
NM_033337.3:c.*115_*118del MANE Select	NP_203123.1:n.*115_*118del