Canonical Allele Identifier: CA1344396433

Gene: CAV3 SSUH2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733875_8733878delinsCGAT , CM000665.2:g.8733875_8733878delinsCGAT	GRCh38
NC_000003.11:g.8775561_8775564delinsCGAT , CM000665.1:g.8775561_8775564delinsCGAT	GRCh37
NC_000003.10:g.8750561_8750564delinsCGAT	NCBI36
NG_008797.2:g.5066_5069delinsCGAT , LRG_329:g.5066_5069delinsCGAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.-2_2delinsCGAT (CAV3)
ENST00000343849.2:c.-2_2delinsCGAT (CAV3)
ENST00000397368.2:c.-2_2delinsCGAT (CAV3)
ENST00000435138.5:c.64+8581_64+8584delinsATCG (SSUH2)	ENSP00000412333.1:n.64+8581_64+8584delins...
ENST00000472766.1:n.40_43delinsCGAT (CAV3)
ENST00000478513.1:n.335+8581_335+8584delinsATCG (SSUH2)
NM_001234.4:c.-2_2delinsCGAT (CAV3)
NM_033337.2:c.-2_2delinsCGAT , LRG_329t1:c.-2_2delinsCGAT (CAV3)
XR_940435.1:n.330+8581_330+8584delinsATCG (SSUH2)
XM_017006530.1:c.-283+8581_-283+8584delinsATCG (SSUH2)	XP_016862019.1:n.-283+8581_-283+8584delin...
NM_001234.5:c.-2_2delinsCGAT (CAV3)
NM_033337.3:c.-2_2delinsCGAT (CAV3)