Canonical Allele Identifier: CA2664270036

Gene: CAV3 SSUH2

Linked Data

• gnomAD v4: 3-8734046-GGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8734049_8734050del , CM000665.2:g.8734049_8734050del	GRCh38
NC_000003.11:g.8775735_8775736del , CM000665.1:g.8775735_8775736del	GRCh37
NC_000003.10:g.8750735_8750736del	NCBI36
NG_008797.2:g.5240_5241del , LRG_329:g.5240_5241del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.114+59_114+60del (CAV3) MANE Select	ENSP00000341940.2:n.114+59_114+60del
ENST00000343849.2:c.114+59_114+60del (CAV3)	ENSP00000341940.2:n.114+59_114+60del
ENST00000397368.2:c.114+59_114+60del (CAV3)	ENSP00000380525.2:n.114+59_114+60del
ENST00000435138.5:c.64+8411_64+8412del (SSUH2)	ENSP00000412333.1:n.64+8411_64+8412del
ENST00000472766.1:n.155+59_155+60del (CAV3)
ENST00000478513.1:n.335+8411_335+8412del (SSUH2)
NM_001234.4:c.114+59_114+60del (CAV3)	NP_001225.1:n.114+59_114+60del
NM_033337.2:c.114+59_114+60del , LRG_329t1:c.114+59_114+60del (CAV3)	NP_203123.1:n.114+59_114+60del
XR_940435.1:n.330+8411_330+8412del (SSUH2)
XM_017006530.1:c.-283+8411_-283+8412del (SSUH2)	XP_016862019.1:n.-283+8411_-283+8412del
NM_001234.5:c.114+59_114+60del (CAV3)	NP_001225.1:n.114+59_114+60del
NM_033337.3:c.114+59_114+60del (CAV3) MANE Select	NP_203123.1:n.114+59_114+60del