Canonical Allele Identifier: CA2702092612
Gene: CAV3 HGNC NCBI
SSUH2 HGNC NCBI

Linked Data

dbSNP Id: rs2124984128
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8741848_8741856del , CM000665.2:g.8741848_8741856del GRCh38
NC_000003.11:g.8783534_8783542del , CM000665.1:g.8783534_8783542del GRCh37
NC_000003.10:g.8758534_8758542del NCBI36
NG_008797.2:g.13039_13047del , LRG_329:g.13039_13047del

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.115-3678_115-3670del (CAV3) MANE Select ENSP00000341940.2:n.115-3678_115-3670del
ENST00000343849.2:c.115-3678_115-3670del (CAV3) ENSP00000341940.2:n.115-3678_115-3670del
ENST00000397368.2:c.115-3678_115-3670del (CAV3) ENSP00000380525.2:n.115-3678_115-3670del
ENST00000435138.5:c.64+610_64+618del (SSUH2) ENSP00000412333.1:n.64+610_64+618del
ENST00000472766.1:n.155+7858_155+7866del (CAV3)
ENST00000478513.1:n.335+610_335+618del (SSUH2)
NM_001234.4:c.115-3678_115-3670del (CAV3) NP_001225.1:n.115-3678_115-3670del
NM_033337.2:c.115-3678_115-3670del , LRG_329t1:c.115-3678_115-3670del (CAV3) NP_203123.1:n.115-3678_115-3670del
XR_940435.1:n.330+610_330+618del (SSUH2)
XM_017006530.1:c.-283+610_-283+618del (SSUH2) XP_016862019.1:n.-283+610_-283+618del
NM_001234.5:c.115-3678_115-3670del (CAV3) NP_001225.1:n.115-3678_115-3670del
NM_033337.3:c.115-3678_115-3670del (CAV3) MANE Select NP_203123.1:n.115-3678_115-3670del
Search 100 bp 5'
Search 100 bp 3'