Canonical Allele Identifier: CA69870283
Gene: CAV3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745604_8745608delinsACCTT , CM000665.2:g.8745604_8745608delinsACCTT GRCh38
NC_000003.11:g.8787290_8787294delinsACCTT , CM000665.1:g.8787290_8787294delinsACCTT GRCh37
NC_000003.10:g.8762290_8762294delinsACCTT NCBI36
NG_008797.2:g.16795_16799delinsACCTT , LRG_329:g.16795_16799delinsACCTT

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.193_197delinsACCTT MANE Select ENSP00000341940.2:p.Phe65_Thr66delinsThrP...
ENST00000343849.2:c.193_197delinsACCTT ENSP00000341940.2:p.Phe65_Thr66delinsThrP...
ENST00000397368.2:c.193_197delinsACCTT ENSP00000380525.2:p.Phe65_Thr66delinsThrP...
ENST00000472766.1:n.155+11614_155+11618delinsACCTT
NM_001234.4:c.193_197delinsACCTT NP_001225.1:p.Phe65_Thr66delinsThrPhe
NM_033337.2:c.193_197delinsACCTT , LRG_329t1:c.193_197delinsACCTT NP_203123.1:p.Phe65_Thr66delinsThrPhe
NM_001234.5:c.193_197delinsACCTT NP_001225.1:p.Phe65_Thr66delinsThrPhe
NM_033337.3:c.193_197delinsACCTT MANE Select NP_203123.1:p.Phe65_Thr66delinsThrPhe