Canonical Allele Identifier: CA2573052243
Gene: CAV3 HGNC NCBI
SSUH2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733978_8733980del , CM000665.2:g.8733978_8733980del GRCh38
NC_000003.11:g.8775664_8775666del , CM000665.1:g.8775664_8775666del GRCh37
NC_000003.10:g.8750664_8750666del NCBI36
NG_008797.2:g.5169_5171del , LRG_329:g.5169_5171del

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.102_104del (CAV3) MANE Select ENSP00000341940.2:p.Glu34del
ENST00000343849.2:c.102_104del (CAV3) ENSP00000341940.2:p.Glu34del
ENST00000397368.2:c.102_104del (CAV3) ENSP00000380525.2:p.Glu34del
ENST00000435138.5:c.64+8481_64+8483del (SSUH2) ENSP00000412333.1:n.64+8481_64+8483del
ENST00000472766.1:n.143_145del (CAV3)
ENST00000478513.1:n.335+8481_335+8483del (SSUH2)
NM_001234.4:c.102_104del (CAV3) NP_001225.1:p.Glu34del
NM_033337.2:c.102_104del , LRG_329t1:c.102_104del (CAV3) NP_203123.1:p.Glu34del
XR_940435.1:n.330+8481_330+8483del (SSUH2)
XM_017006530.1:c.-283+8481_-283+8483del (SSUH2) XP_016862019.1:n.-283+8481_-283+8483del
NM_001234.5:c.102_104del (CAV3) NP_001225.1:p.Glu34del
NM_033337.3:c.102_104del (CAV3) MANE Select NP_203123.1:p.Glu34del
Search 100 bp 5'
Search 100 bp 3'