Canonical Allele Identifier: CA1344403949

Gene: CAV3 SSUH2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8741800_8741801delinsTC , CM000665.2:g.8741800_8741801delinsTC	GRCh38
NC_000003.11:g.8783486_8783487delinsTC , CM000665.1:g.8783486_8783487delinsTC	GRCh37
NC_000003.10:g.8758486_8758487delinsTC	NCBI36
NG_008797.2:g.12991_12992delinsTC , LRG_329:g.12991_12992delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.115-3726_115-3725delinsTC (CAV3) MANE Select	ENSP00000341940.2:n.115-3726_115-3725deli...
ENST00000343849.2:c.115-3726_115-3725delinsTC (CAV3)	ENSP00000341940.2:n.115-3726_115-3725deli...
ENST00000397368.2:c.115-3726_115-3725delinsTC (CAV3)	ENSP00000380525.2:n.115-3726_115-3725deli...
ENST00000435138.5:c.64+658_64+659delinsGA (SSUH2)	ENSP00000412333.1:n.64+658_64+659delinsGA...
ENST00000472766.1:n.155+7810_155+7811delinsTC (CAV3)
ENST00000478513.1:n.335+658_335+659delinsGA (SSUH2)
NM_001234.4:c.115-3726_115-3725delinsTC (CAV3)	NP_001225.1:n.115-3726_115-3725delinsTC
NM_033337.2:c.115-3726_115-3725delinsTC , LRG_329t1:c.115-3726_115-3725delinsTC (CAV3)	NP_203123.1:n.115-3726_115-3725delinsTC
XR_940435.1:n.330+658_330+659delinsGA (SSUH2)
XM_017006530.1:c.-283+658_-283+659delinsGA (SSUH2)	XP_016862019.1:n.-283+658_-283+659delinsG...
NM_001234.5:c.115-3726_115-3725delinsTC (CAV3)	NP_001225.1:n.115-3726_115-3725delinsTC
NM_033337.3:c.115-3726_115-3725delinsTC (CAV3) MANE Select	NP_203123.1:n.115-3726_115-3725delinsTC