Canonical Allele Identifier: CA647438092

Gene: CAV3 SSUH2

Linked Data

• gnomAD v4: 3-8733861-TC-T
• COSMIC: COSN23012805

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733867del , CM000665.2:g.8733867del	GRCh38
NC_000003.11:g.8775553del , CM000665.1:g.8775553del	GRCh37
NC_000003.10:g.8750553del	NCBI36
NG_008797.2:g.5058del , LRG_329:g.5058del

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.-10del (CAV3) MANE Select	ENSP00000341940.2:n.-10del
ENST00000343849.2:c.-10del (CAV3)	ENSP00000341940.2:n.-10del
ENST00000435138.5:c.64+8597del (SSUH2)	ENSP00000412333.1:n.64+8597del
ENST00000472766.1:n.32del (CAV3)
ENST00000478513.1:n.335+8597del (SSUH2)
NM_001234.4:c.-10del (CAV3)	NP_001225.1:n.-10del
NM_033337.2:c.-10del , LRG_329t1:c.-10del (CAV3)	NP_203123.1:n.-10del
XR_940435.1:n.330+8597del (SSUH2)
XM_017006530.1:c.-283+8597del (SSUH2)	XP_016862019.1:n.-283+8597del
NM_001234.5:c.-10del (CAV3)	NP_001225.1:n.-10del
NM_033337.3:c.-10del (CAV3) MANE Select	NP_203123.1:n.-10del