Canonical Allele Identifier: CA647438113

Gene: CAV3 SSUH2

Linked Data

• dbSNP Id: rs1707661213
• gnomAD v4: 3-8734090-GAA-G
• COSMIC: COSN20069181

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8734093_8734094del , CM000665.2:g.8734093_8734094del	GRCh38
NC_000003.11:g.8775779_8775780del , CM000665.1:g.8775779_8775780del	GRCh37
NC_000003.10:g.8750779_8750780del	NCBI36
NG_008797.2:g.5284_5285del , LRG_329:g.5284_5285del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.114+103_114+104del (CAV3) MANE Select	ENSP00000341940.2:n.114+103_114+104del
ENST00000343849.2:c.114+103_114+104del (CAV3)	ENSP00000341940.2:n.114+103_114+104del
ENST00000397368.2:c.114+103_114+104del (CAV3)	ENSP00000380525.2:n.114+103_114+104del
ENST00000435138.5:c.64+8367_64+8368del (SSUH2)	ENSP00000412333.1:n.64+8367_64+8368del
ENST00000472766.1:n.155+103_155+104del (CAV3)
ENST00000478513.1:n.335+8367_335+8368del (SSUH2)
NM_001234.4:c.114+103_114+104del (CAV3)	NP_001225.1:n.114+103_114+104del
NM_033337.2:c.114+103_114+104del , LRG_329t1:c.114+103_114+104del (CAV3)	NP_203123.1:n.114+103_114+104del
XR_940435.1:n.330+8367_330+8368del (SSUH2)
XM_017006530.1:c.-283+8367_-283+8368del (SSUH2)	XP_016862019.1:n.-283+8367_-283+8368del
NM_001234.5:c.114+103_114+104del (CAV3)	NP_001225.1:n.114+103_114+104del
NM_033337.3:c.114+103_114+104del (CAV3) MANE Select	NP_203123.1:n.114+103_114+104del