Canonical Allele Identifier: CA1344405867
Gene: CAV3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745700_8745704delinsTTCTG , CM000665.2:g.8745700_8745704delinsTTCTG GRCh38
NC_000003.11:g.8787386_8787390delinsTTCTG , CM000665.1:g.8787386_8787390delinsTTCTG GRCh37
NC_000003.10:g.8762386_8762390delinsTTCTG NCBI36
NG_008797.2:g.16891_16895delinsTTCTG , LRG_329:g.16891_16895delinsTTCTG

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.289_293delinsTTCTG MANE Select ENSP00000341940.2:p.Phe97=
ENST00000343849.2:c.289_293delinsTTCTG ENSP00000341940.2:p.Phe97=
ENST00000397368.2:c.289_293delinsTTCTG ENSP00000380525.2:p.Phe97=
ENST00000472766.1:n.155+11710_155+11714delinsTTCTG
NM_001234.4:c.289_293delinsTTCTG NP_001225.1:p.Phe97=
NM_033337.2:c.289_293delinsTTCTG , LRG_329t1:c.289_293delinsTTCTG NP_203123.1:p.Phe97=
NM_001234.5:c.289_293delinsTTCTG NP_001225.1:p.Phe97=
NM_033337.3:c.289_293delinsTTCTG MANE Select NP_203123.1:p.Phe97=
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