Canonical Allele Identifier: CA1344396465

Gene: CAV3 SSUH2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733881_8733883delinsTGG , CM000665.2:g.8733881_8733883delinsTGG	GRCh38
NC_000003.11:g.8775567_8775569delinsTGG , CM000665.1:g.8775567_8775569delinsTGG	GRCh37
NC_000003.10:g.8750567_8750569delinsTGG	NCBI36
NG_008797.2:g.5072_5074delinsTGG , LRG_329:g.5072_5074delinsTGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.5_7delinsTGG (CAV3) MANE Select	ENSP00000341940.2:p.Met2=
ENST00000343849.2:c.5_7delinsTGG (CAV3)	ENSP00000341940.2:p.Met2=
ENST00000397368.2:c.5_7delinsTGG (CAV3)	ENSP00000380525.2:p.Met2=
ENST00000435138.5:c.64+8576_64+8578delinsCCA (SSUH2)	ENSP00000412333.1:n.64+8576_64+8578delins...
ENST00000472766.1:n.46_48delinsTGG (CAV3)
ENST00000478513.1:n.335+8576_335+8578delinsCCA (SSUH2)
NM_001234.4:c.5_7delinsTGG (CAV3)	NP_001225.1:p.Met2=
NM_033337.2:c.5_7delinsTGG , LRG_329t1:c.5_7delinsTGG (CAV3)	NP_203123.1:p.Met2=
XR_940435.1:n.330+8576_330+8578delinsCCA (SSUH2)
XM_017006530.1:c.-283+8576_-283+8578delinsCCA (SSUH2)	XP_016862019.1:n.-283+8576_-283+8578delin...
NM_001234.5:c.5_7delinsTGG (CAV3)	NP_001225.1:p.Met2=
NM_033337.3:c.5_7delinsTGG (CAV3) MANE Select	NP_203123.1:p.Met2=