Canonical Allele Identifier: CA1344405686
Gene: CAV3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745404_8745405delinsAG , CM000665.2:g.8745404_8745405delinsAG GRCh38
NC_000003.11:g.8787090_8787091delinsAG , CM000665.1:g.8787090_8787091delinsAG GRCh37
NC_000003.10:g.8762090_8762091delinsAG NCBI36
NG_008797.2:g.16595_16596delinsAG , LRG_329:g.16595_16596delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.115-122_115-121delinsAG MANE Select ENSP00000341940.2:n.115-122_115-121delinsAG
ENST00000343849.2:c.115-122_115-121delinsAG ENSP00000341940.2:n.115-122_115-121delinsAG
ENST00000397368.2:c.115-122_115-121delinsAG ENSP00000380525.2:n.115-122_115-121delinsAG
ENST00000472766.1:n.155+11414_155+11415delinsAG
NM_001234.4:c.115-122_115-121delinsAG NP_001225.1:n.115-122_115-121delinsAG
NM_033337.2:c.115-122_115-121delinsAG , LRG_329t1:c.115-122_115-121delinsAG NP_203123.1:n.115-122_115-121delinsAG
NM_001234.5:c.115-122_115-121delinsAG NP_001225.1:n.115-122_115-121delinsAG
NM_033337.3:c.115-122_115-121delinsAG MANE Select NP_203123.1:n.115-122_115-121delinsAG