Canonical Allele Identifier: CA1344402057

Gene: CAV3 SSUH2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8738412_8738413delinsGA , CM000665.2:g.8738412_8738413delinsGA	GRCh38
NC_000003.11:g.8780098_8780099delinsGA , CM000665.1:g.8780098_8780099delinsGA	GRCh37
NC_000003.10:g.8755098_8755099delinsGA	NCBI36
NG_008797.2:g.9603_9604delinsGA , LRG_329:g.9603_9604delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.114+4422_114+4423delinsGA (CAV3) MANE Select	ENSP00000341940.2:n.114+4422_114+4423delinsGA
ENST00000343849.2:c.114+4422_114+4423delinsGA (CAV3)	ENSP00000341940.2:n.114+4422_114+4423delinsGA
ENST00000397368.2:c.114+4422_114+4423delinsGA (CAV3)	ENSP00000380525.2:n.114+4422_114+4423delinsGA
ENST00000435138.5:c.64+4046_64+4047delinsTC (SSUH2)	ENSP00000412333.1:n.64+4046_64+4047delinsTC
ENST00000472766.1:n.155+4422_155+4423delinsGA (CAV3)
ENST00000478513.1:n.335+4046_335+4047delinsTC (SSUH2)
NM_001234.4:c.114+4422_114+4423delinsGA (CAV3)	NP_001225.1:n.114+4422_114+4423delinsGA
NM_033337.2:c.114+4422_114+4423delinsGA , LRG_329t1:c.114+4422_114+4423delinsGA (CAV3)	NP_203123.1:n.114+4422_114+4423delinsGA
XR_940435.1:n.330+4046_330+4047delinsTC (SSUH2)
XM_017006530.1:c.-283+4046_-283+4047delinsTC (SSUH2)	XP_016862019.1:n.-283+4046_-283+4047delinsTC
NM_001234.5:c.114+4422_114+4423delinsGA (CAV3)	NP_001225.1:n.114+4422_114+4423delinsGA
NM_033337.3:c.114+4422_114+4423delinsGA (CAV3) MANE Select	NP_203123.1:n.114+4422_114+4423delinsGA