Canonical Allele Identifier: CA2577496479

Gene: CAV3 SSUH2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733987del , CM000665.2:g.8733987del	GRCh38
NC_000003.11:g.8775673del , CM000665.1:g.8775673del	GRCh37
NC_000003.10:g.8750673del	NCBI36
NG_008797.2:g.5178del , LRG_329:g.5178del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.111del (CAV3) MANE Select	ENSP00000341940.2:p.Lys38ArgfsTer7
ENST00000343849.2:c.111del (CAV3)	ENSP00000341940.2:p.Lys38ArgfsTer7
ENST00000397368.2:c.111del (CAV3)	ENSP00000380525.2:p.Lys38ArgfsTer7
ENST00000435138.5:c.64+8472del (SSUH2)	ENSP00000412333.1:n.64+8472del
ENST00000472766.1:n.152del (CAV3)
ENST00000478513.1:n.335+8472del (SSUH2)
NM_001234.4:c.111del (CAV3)	NP_001225.1:p.Lys38ArgfsTer7
NM_033337.2:c.111del , LRG_329t1:c.111del (CAV3)	NP_203123.1:p.Lys38ArgfsTer7
XR_940435.1:n.330+8472del (SSUH2)
XM_017006530.1:c.-283+8472del (SSUH2)	XP_016862019.1:n.-283+8472del
NM_001234.5:c.111del (CAV3)	NP_001225.1:p.Lys38ArgfsTer7
NM_033337.3:c.111del (CAV3) MANE Select	NP_203123.1:p.Lys38ArgfsTer7