Canonical Allele Identifier: CA1344402365

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8738798_8738824delinsACATGACAATGGATCACAGCACTGCTC , CM000665.2:g.8738798_8738824delinsACATGACAATGGATCACAGCACTGCTC GRCh38
NC_000003.11:g.8780484_8780510delinsACATGACAATGGATCACAGCACTGCTC , CM000665.1:g.8780484_8780510delinsACATGACAATGGATCACAGCACTGCTC GRCh37
NC_000003.10:g.8755484_8755510delinsACATGACAATGGATCACAGCACTGCTC NCBI36
NG_008797.2:g.9989_10015delinsACATGACAATGGATCACAGCACTGCTC , LRG_329:g.9989_10015delinsACATGACAATGGATCACAGCACTGCTC

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.114+4808_114+4834delinsACATGACAATGGATCACAGCACTGCTC (CAV3) MANE Select ENSP00000341940.2:n.114+4808_114+4834deli...
ENST00000343849.2:c.114+4808_114+4834delinsACATGACAATGGATCACAGCACTGCTC (CAV3) ENSP00000341940.2:n.114+4808_114+4834deli...
ENST00000397368.2:c.114+4808_114+4834delinsACATGACAATGGATCACAGCACTGCTC (CAV3) ENSP00000380525.2:n.114+4808_114+4834deli...
ENST00000435138.5:c.64+3635_64+3661delinsGAGCAGTGCTGTGATCCATTGTCATGT (SSUH2) ENSP00000412333.1:n.64+3635_64+3661delins...
ENST00000472766.1:n.155+4808_155+4834delinsACATGACAATGGATCACAGCACTGCTC (CAV3)
ENST00000478513.1:n.335+3635_335+3661delinsGAGCAGTGCTGTGATCCATTGTCATGT (SSUH2)
NM_001234.4:c.114+4808_114+4834delinsACATGACAATGGATCACAGCACTGCTC (CAV3) NP_001225.1:n.114+4808_114+4834delinsACAT...
NM_033337.2:c.114+4808_114+4834delinsACATGACAATGGATCACAGCACTGCTC , LRG_329t1:c.114+4808_114+4834delinsACATGACAATGGATCACAGCACTGCTC (CAV3) NP_203123.1:n.114+4808_114+4834delinsACAT...
XR_940435.1:n.330+3635_330+3661delinsGAGCAGTGCTGTGATCCATTGTCATGT (SSUH2)
XM_017006530.1:c.-283+3635_-283+3661delinsGAGCAGTGCTGTGATCCATTGTCATGT (SSUH2) XP_016862019.1:n.-283+3635_-283+3661delin...
NM_001234.5:c.114+4808_114+4834delinsACATGACAATGGATCACAGCACTGCTC (CAV3) NP_001225.1:n.114+4808_114+4834delinsACAT...
NM_033337.3:c.114+4808_114+4834delinsACATGACAATGGATCACAGCACTGCTC (CAV3) MANE Select NP_203123.1:n.114+4808_114+4834delinsACAT...