Canonical Allele Identifier: CA2664271696

Gene: CAV3

Linked Data

• gnomAD v4: 3-8745619-TAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745620_8745621del , CM000665.2:g.8745620_8745621del	GRCh38
NC_000003.11:g.8787306_8787307del , CM000665.1:g.8787306_8787307del	GRCh37
NC_000003.10:g.8762306_8762307del	NCBI36
NG_008797.2:g.16811_16812del , LRG_329:g.16811_16812del

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.209_210del MANE Select	ENSP00000341940.2:p.Tyr70LeufsTer?
ENST00000343849.2:c.209_210del	ENSP00000341940.2:p.Tyr70LeufsTer?
ENST00000397368.2:c.209_210del	ENSP00000380525.2:p.Tyr70LeufsTer?
ENST00000472766.1:n.155+11630_155+11631del
NM_001234.4:c.209_210del	NP_001225.1:p.Tyr70LeufsTer?
NM_033337.2:c.209_210del , LRG_329t1:c.209_210del	NP_203123.1:p.Tyr70LeufsTer?
NM_001234.5:c.209_210del	NP_001225.1:p.Tyr70LeufsTer?
NM_033337.3:c.209_210del MANE Select	NP_203123.1:p.Tyr70LeufsTer?