Canonical Allele Identifier: CA1344402330

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8738762_8738765delinsTGTC , CM000665.2:g.8738762_8738765delinsTGTC GRCh38
NC_000003.11:g.8780448_8780451delinsTGTC , CM000665.1:g.8780448_8780451delinsTGTC GRCh37
NC_000003.10:g.8755448_8755451delinsTGTC NCBI36
NG_008797.2:g.9953_9956delinsTGTC , LRG_329:g.9953_9956delinsTGTC

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.114+4772_114+4775delinsTGTC (CAV3) MANE Select ENSP00000341940.2:n.114+4772_114+4775deli...
ENST00000343849.2:c.114+4772_114+4775delinsTGTC (CAV3) ENSP00000341940.2:n.114+4772_114+4775deli...
ENST00000397368.2:c.114+4772_114+4775delinsTGTC (CAV3) ENSP00000380525.2:n.114+4772_114+4775deli...
ENST00000435138.5:c.64+3694_64+3697delinsGACA (SSUH2) ENSP00000412333.1:n.64+3694_64+3697delins...
ENST00000472766.1:n.155+4772_155+4775delinsTGTC (CAV3)
ENST00000478513.1:n.335+3694_335+3697delinsGACA (SSUH2)
NM_001234.4:c.114+4772_114+4775delinsTGTC (CAV3) NP_001225.1:n.114+4772_114+4775delinsTGTC...
NM_033337.2:c.114+4772_114+4775delinsTGTC , LRG_329t1:c.114+4772_114+4775delinsTGTC (CAV3) NP_203123.1:n.114+4772_114+4775delinsTGTC...
XR_940435.1:n.330+3694_330+3697delinsGACA (SSUH2)
XM_017006530.1:c.-283+3694_-283+3697delinsGACA (SSUH2) XP_016862019.1:n.-283+3694_-283+3697delin...
NM_001234.5:c.114+4772_114+4775delinsTGTC (CAV3) NP_001225.1:n.114+4772_114+4775delinsTGTC...
NM_033337.3:c.114+4772_114+4775delinsTGTC (CAV3) MANE Select NP_203123.1:n.114+4772_114+4775delinsTGTC...