Canonical Allele Identifier: CA1344405937
Gene: CAV3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745834_8745835delinsCA , CM000665.2:g.8745834_8745835delinsCA GRCh38
NC_000003.11:g.8787520_8787521delinsCA , CM000665.1:g.8787520_8787521delinsCA GRCh37
NC_000003.10:g.8762520_8762521delinsCA NCBI36
NG_008797.2:g.17025_17026delinsCA , LRG_329:g.17025_17026delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.423_424delinsCA MANE Select ENSP00000341940.2:p.Ser141=
ENST00000343849.2:c.423_424delinsCA ENSP00000341940.2:p.Ser141=
ENST00000397368.2:c.423_424delinsCA ENSP00000380525.2:p.Ser141=
ENST00000472766.1:n.155+11844_155+11845delinsCA
NM_001234.4:c.423_424delinsCA NP_001225.1:p.Ser141=
NM_033337.2:c.423_424delinsCA , LRG_329t1:c.423_424delinsCA NP_203123.1:p.Ser141=
NM_001234.5:c.423_424delinsCA NP_001225.1:p.Ser141=
NM_033337.3:c.423_424delinsCA MANE Select NP_203123.1:p.Ser141=