Canonical Allele Identifier: CA2664271801

Gene: CAV3

Linked Data

• gnomAD v4: 3-8745893-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745896del , CM000665.2:g.8745896del	GRCh38
NC_000003.11:g.8787582del , CM000665.1:g.8787582del	GRCh37
NC_000003.10:g.8762582del	NCBI36
NG_008797.2:g.17087del , LRG_329:g.17087del

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.*29del MANE Select	ENSP00000341940.2:n.*29del
ENST00000343849.2:c.*29del	ENSP00000341940.2:n.*29del
ENST00000397368.2:c.*6+23del	ENSP00000380525.2:n.*6+23del
ENST00000472766.1:n.155+11906del
NM_001234.4:c.*6+23del	NP_001225.1:n.*6+23del
NM_033337.2:c.*29del , LRG_329t1:c.*29del	NP_203123.1:n.*29del
NM_001234.5:c.*6+23del	NP_001225.1:n.*6+23del
NM_033337.3:c.*29del MANE Select	NP_203123.1:n.*29del