Canonical Allele Identifier: CA1044886727

Gene: CAV3 SSUH2

Linked Data

• dbSNP Id: rs1707646737
• gnomAD v3: 3-8733802-C-CTT
• gnomAD v4: 3-8733802-C-CTT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733803_8733804insTT , CM000665.2:g.8733803_8733804insTT	GRCh38
NC_000003.11:g.8775489_8775490insTT , CM000665.1:g.8775489_8775490insTT	GRCh37
NC_000003.10:g.8750489_8750490insTT	NCBI36
NG_008797.2:g.4994_4995insTT , LRG_329:g.4994_4995insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.-74_-73insTT (CAV3) MANE Select	ENSP00000341940.2:n.-74_-73insTT
ENST00000343849.2:c.-74_-73insTT (CAV3)	ENSP00000341940.2:n.-74_-73insTT
ENST00000435138.5:c.64+8656_64+8657insAA (SSUH2)	ENSP00000412333.1:n.64+8656_64+8657insAA
ENST00000478513.1:n.335+8656_335+8657insAA (SSUH2)
NM_001234.4:c.-74_-73insTT (CAV3)	NP_001225.1:n.-74_-73insTT
NM_033337.2:c.-74_-73insTT , LRG_329t1:c.-74_-73insTT (CAV3)	NP_203123.1:n.-74_-73insTT
XR_940435.1:n.330+8656_330+8657insAA (SSUH2)
XM_017006530.1:c.-283+8656_-283+8657insAA (SSUH2)	XP_016862019.1:n.-283+8656_-283+8657insAA
NM_001234.5:c.-74_-73insTT (CAV3)	NP_001225.1:n.-74_-73insTT
NM_033337.3:c.-74_-73insTT (CAV3) MANE Select	NP_203123.1:n.-74_-73insTT