Canonical Allele Identifier: CA1344406025

Gene: CAV3

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745991_8745992delinsTG , CM000665.2:g.8745991_8745992delinsTG	GRCh38
NC_000003.11:g.8787677_8787678delinsTG , CM000665.1:g.8787677_8787678delinsTG	GRCh37
NC_000003.10:g.8762677_8762678delinsTG	NCBI36
NG_008797.2:g.17182_17183delinsTG , LRG_329:g.17182_17183delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.*124_*125delinsTG MANE Select	ENSP00000341940.2:n.*124_*125delinsTG
ENST00000343849.2:c.*124_*125delinsTG	ENSP00000341940.2:n.*124_*125delinsTG
ENST00000397368.2:c.*28_*29delinsTG	ENSP00000380525.2:n.*28_*29delinsTG
ENST00000472766.1:n.155+12001_155+12002delinsTG
NM_001234.4:c.*28_*29delinsTG	NP_001225.1:n.*28_*29delinsTG
NM_033337.2:c.*124_*125delinsTG , LRG_329t1:c.*124_*125delinsTG	NP_203123.1:n.*124_*125delinsTG
NM_001234.5:c.*28_*29delinsTG	NP_001225.1:n.*28_*29delinsTG
NM_033337.3:c.*124_*125delinsTG MANE Select	NP_203123.1:n.*124_*125delinsTG