Canonical Allele Identifier: CA1344405955

Gene: CAV3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745864_8745865delinsCT , CM000665.2:g.8745864_8745865delinsCT	GRCh38
NC_000003.11:g.8787550_8787551delinsCT , CM000665.1:g.8787550_8787551delinsCT	GRCh37
NC_000003.10:g.8762550_8762551delinsCT	NCBI36
NG_008797.2:g.17055_17056delinsCT , LRG_329:g.17055_17056delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.453_454delinsCT MANE Select	ENSP00000341940.2:p.Val151=
ENST00000343849.2:c.453_454delinsCT	ENSP00000341940.2:p.Val151=
ENST00000397368.2:c.453_454delinsCT	ENSP00000380525.2:p.Val151=
ENST00000472766.1:n.155+11874_155+11875delinsCT
NM_001234.4:c.453_454delinsCT	NP_001225.1:p.Val151=
NM_033337.2:c.453_454delinsCT , LRG_329t1:c.453_454delinsCT	NP_203123.1:p.Val151=
NM_001234.5:c.453_454delinsCT	NP_001225.1:p.Val151=
NM_033337.3:c.453_454delinsCT MANE Select	NP_203123.1:p.Val151=