Canonical Allele Identifier: CA2664271849
Gene: CAV3 HGNC NCBI

Linked Data

gnomAD v4: 3-8745930-ACTT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745935_8745937del , CM000665.2:g.8745935_8745937del GRCh38
NC_000003.11:g.8787621_8787623del , CM000665.1:g.8787621_8787623del GRCh37
NC_000003.10:g.8762621_8762623del NCBI36
NG_008797.2:g.17126_17128del , LRG_329:g.17126_17128del

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.*68_*70del MANE Select ENSP00000341940.2:n.*68_*70del
ENST00000343849.2:c.*68_*70del ENSP00000341940.2:n.*68_*70del
ENST00000397368.2:c.*7-35_*7-33del ENSP00000380525.2:n.*7-35_*7-33del
ENST00000472766.1:n.155+11945_155+11947del
NM_001234.4:c.*7-35_*7-33del NP_001225.1:n.*7-35_*7-33del
NM_033337.2:c.*68_*70del , LRG_329t1:c.*68_*70del NP_203123.1:n.*68_*70del
NM_001234.5:c.*7-35_*7-33del NP_001225.1:n.*7-35_*7-33del
NM_033337.3:c.*68_*70del MANE Select NP_203123.1:n.*68_*70del
Search 100 bp 5'
Search 100 bp 3'