Canonical Allele Identifier: CA2989035018

Gene: CAV3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745867_8745868del , CM000665.2:g.8745867_8745868del	GRCh38
NC_000003.11:g.8787553_8787554del , CM000665.1:g.8787553_8787554del	GRCh37
NC_000003.10:g.8762553_8762554del	NCBI36
NG_008797.2:g.17058_17059del , LRG_329:g.17058_17059del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.456_*1del MANE Select	ENSP00000341940.2:n.[c.456_*1del;Ter152=]
ENST00000343849.2:c.456_*1del	ENSP00000341940.2:n.[c.456_*1del;Ter152=]
ENST00000397368.2:c.456_*1del	ENSP00000380525.2:n.[c.456_*1del;Ter152=]
ENST00000472766.1:n.155+11877_155+11878del
NM_001234.4:c.456_*1del	NP_001225.1:n.[c.456_*1del;Ter152=]
NM_033337.2:c.456_*1del , LRG_329t1:c.456_*1del	NP_203123.1:n.[c.456_*1del;Ter152=]
NM_001234.5:c.456_*1del	NP_001225.1:n.[c.456_*1del;Ter152=]
NM_033337.3:c.456_*1del MANE Select	NP_203123.1:n.[c.456_*1del;Ter152=]