Canonical Allele Identifier: CA1344403858

Gene: CAV3 SSUH2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8741613_8741615delinsAAC , CM000665.2:g.8741613_8741615delinsAAC	GRCh38
NC_000003.11:g.8783299_8783301delinsAAC , CM000665.1:g.8783299_8783301delinsAAC	GRCh37
NC_000003.10:g.8758299_8758301delinsAAC	NCBI36
NG_008797.2:g.12804_12806delinsAAC , LRG_329:g.12804_12806delinsAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.115-3913_115-3911delinsAAC (CAV3) MANE Select	ENSP00000341940.2:n.115-3913_115-3911delinsAAC
ENST00000343849.2:c.115-3913_115-3911delinsAAC (CAV3)	ENSP00000341940.2:n.115-3913_115-3911delinsAAC
ENST00000397368.2:c.115-3913_115-3911delinsAAC (CAV3)	ENSP00000380525.2:n.115-3913_115-3911delinsAAC
ENST00000435138.5:c.64+844_64+846delinsGTT (SSUH2)	ENSP00000412333.1:n.64+844_64+846delinsGTT
ENST00000472766.1:n.155+7623_155+7625delinsAAC (CAV3)
ENST00000478513.1:n.335+844_335+846delinsGTT (SSUH2)
NM_001234.4:c.115-3913_115-3911delinsAAC (CAV3)	NP_001225.1:n.115-3913_115-3911delinsAAC
NM_033337.2:c.115-3913_115-3911delinsAAC , LRG_329t1:c.115-3913_115-3911delinsAAC (CAV3)	NP_203123.1:n.115-3913_115-3911delinsAAC
XR_940435.1:n.330+844_330+846delinsGTT (SSUH2)
XM_017006530.1:c.-283+844_-283+846delinsGTT (SSUH2)	XP_016862019.1:n.-283+844_-283+846delinsGTT
NM_001234.5:c.115-3913_115-3911delinsAAC (CAV3)	NP_001225.1:n.115-3913_115-3911delinsAAC
NM_033337.3:c.115-3913_115-3911delinsAAC (CAV3) MANE Select	NP_203123.1:n.115-3913_115-3911delinsAAC