Canonical Allele Identifier: CA1344396768

Gene: CAV3 SSUH2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733974_8733978delinsACGAG , CM000665.2:g.8733974_8733978delinsACGAG	GRCh38
NC_000003.11:g.8775660_8775664delinsACGAG , CM000665.1:g.8775660_8775664delinsACGAG	GRCh37
NC_000003.10:g.8750660_8750664delinsACGAG	NCBI36
NG_008797.2:g.5165_5169delinsACGAG , LRG_329:g.5165_5169delinsACGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.98_102delinsACGAG (CAV3) MANE Select	ENSP00000341940.2:p.Asn33=
ENST00000343849.2:c.98_102delinsACGAG (CAV3)	ENSP00000341940.2:p.Asn33=
ENST00000397368.2:c.98_102delinsACGAG (CAV3)	ENSP00000380525.2:p.Asn33=
ENST00000435138.5:c.64+8481_64+8485delinsCTCGT (SSUH2)	ENSP00000412333.1:n.64+8481_64+8485delins...
ENST00000472766.1:n.139_143delinsACGAG (CAV3)
ENST00000478513.1:n.335+8481_335+8485delinsCTCGT (SSUH2)
NM_001234.4:c.98_102delinsACGAG (CAV3)	NP_001225.1:p.Asn33=
NM_033337.2:c.98_102delinsACGAG , LRG_329t1:c.98_102delinsACGAG (CAV3)	NP_203123.1:p.Asn33=
XR_940435.1:n.330+8481_330+8485delinsCTCGT (SSUH2)
XM_017006530.1:c.-283+8481_-283+8485delinsCTCGT (SSUH2)	XP_016862019.1:n.-283+8481_-283+8485delin...
NM_001234.5:c.98_102delinsACGAG (CAV3)	NP_001225.1:p.Asn33=
NM_033337.3:c.98_102delinsACGAG (CAV3) MANE Select	NP_203123.1:p.Asn33=