Canonical Allele Identifier: CA1344405738
Gene: CAV3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745496_8745497delinsAG , CM000665.2:g.8745496_8745497delinsAG GRCh38
NC_000003.11:g.8787182_8787183delinsAG , CM000665.1:g.8787182_8787183delinsAG GRCh37
NC_000003.10:g.8762182_8762183delinsAG NCBI36
NG_008797.2:g.16687_16688delinsAG , LRG_329:g.16687_16688delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.115-30_115-29delinsAG MANE Select ENSP00000341940.2:n.115-30_115-29delinsAG...
ENST00000343849.2:c.115-30_115-29delinsAG ENSP00000341940.2:n.115-30_115-29delinsAG...
ENST00000397368.2:c.115-30_115-29delinsAG ENSP00000380525.2:n.115-30_115-29delinsAG...
ENST00000472766.1:n.155+11506_155+11507delinsAG
NM_001234.4:c.115-30_115-29delinsAG NP_001225.1:n.115-30_115-29delinsAG
NM_033337.2:c.115-30_115-29delinsAG , LRG_329t1:c.115-30_115-29delinsAG NP_203123.1:n.115-30_115-29delinsAG
NM_001234.5:c.115-30_115-29delinsAG NP_001225.1:n.115-30_115-29delinsAG
NM_033337.3:c.115-30_115-29delinsAG MANE Select NP_203123.1:n.115-30_115-29delinsAG