Canonical Allele Identifier: CA2577496515

Gene: CAV3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745800dup , CM000665.2:g.8745800dup	GRCh38
NC_000003.11:g.8787486dup , CM000665.1:g.8787486dup	GRCh37
NC_000003.10:g.8762486dup	NCBI36
NG_008797.2:g.16991dup , LRG_329:g.16991dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.389dup MANE Select	ENSP00000341940.2:p.Asn130LysfsTer?
ENST00000343849.2:c.389dup	ENSP00000341940.2:p.Asn130LysfsTer?
ENST00000397368.2:c.389dup	ENSP00000380525.2:p.Asn130LysfsTer?
ENST00000472766.1:n.155+11810dup
NM_001234.4:c.389dup	NP_001225.1:p.Asn130LysfsTer?
NM_033337.2:c.389dup , LRG_329t1:c.389dup	NP_203123.1:p.Asn130LysfsTer?
NM_001234.5:c.389dup	NP_001225.1:p.Asn130LysfsTer?
NM_033337.3:c.389dup MANE Select	NP_203123.1:p.Asn130LysfsTer?