Canonical Allele Identifier: CA1344403925

Gene: CAV3 SSUH2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8741760_8741762delinsACC , CM000665.2:g.8741760_8741762delinsACC	GRCh38
NC_000003.11:g.8783446_8783448delinsACC , CM000665.1:g.8783446_8783448delinsACC	GRCh37
NC_000003.10:g.8758446_8758448delinsACC	NCBI36
NG_008797.2:g.12951_12953delinsACC , LRG_329:g.12951_12953delinsACC

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.115-3766_115-3764delinsACC (CAV3) MANE Select	ENSP00000341940.2:n.115-3766_115-3764deli...
ENST00000343849.2:c.115-3766_115-3764delinsACC (CAV3)	ENSP00000341940.2:n.115-3766_115-3764deli...
ENST00000397368.2:c.115-3766_115-3764delinsACC (CAV3)	ENSP00000380525.2:n.115-3766_115-3764deli...
ENST00000435138.5:c.64+697_64+699delinsGGT (SSUH2)	ENSP00000412333.1:n.64+697_64+699delinsGG...
ENST00000472766.1:n.155+7770_155+7772delinsACC (CAV3)
ENST00000478513.1:n.335+697_335+699delinsGGT (SSUH2)
NM_001234.4:c.115-3766_115-3764delinsACC (CAV3)	NP_001225.1:n.115-3766_115-3764delinsACC
NM_033337.2:c.115-3766_115-3764delinsACC , LRG_329t1:c.115-3766_115-3764delinsACC (CAV3)	NP_203123.1:n.115-3766_115-3764delinsACC
XR_940435.1:n.330+697_330+699delinsGGT (SSUH2)
XM_017006530.1:c.-283+697_-283+699delinsGGT (SSUH2)	XP_016862019.1:n.-283+697_-283+699delinsG...
NM_001234.5:c.115-3766_115-3764delinsACC (CAV3)	NP_001225.1:n.115-3766_115-3764delinsACC
NM_033337.3:c.115-3766_115-3764delinsACC (CAV3) MANE Select	NP_203123.1:n.115-3766_115-3764delinsACC