Canonical Allele Identifier: CA586165510
Gene: RECQL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1454615
ClinVar RCV Id: RCV001941956
dbSNP Id: rs1564802842

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144515334del , CM000670.2:g.144515334del GRCh38
NC_000008.10:g.145740718del , CM000670.1:g.145740718del GRCh37
NC_000008.9:g.145711526del NCBI36
NG_016430.1:g.7493del
NG_033083.1:g.2370del
NG_016430.2:g.7493del

Transcript Alleles

HGVS Amino-acid Change
ENST00000688394.1:n.405del
ENST00000617875.6:c.1382del MANE Select ENSP00000482313.2:p.Gln461ArgfsTer?
ENST00000532846.2:c.267del
ENST00000617875.4:c.1382del ENSP00000482313.1:p.Gln461ArgfsTer?
ENST00000621189.4:c.311del ENSP00000483145.1:p.Gln104ArgfsTer?
NM_004260.3:c.1382del NP_004251.3:p.Gln461ArgfsTer?
XM_011517380.1:c.1382del XP_011515682.1:p.Gln461ArgfsTer?
XM_011517381.1:c.1286del XP_011515683.1:p.Gln429ArgfsTer?
XM_011517382.1:c.1382del XP_011515684.1:p.Gln461ArgfsTer?
XM_011517383.1:c.1382del XP_011515685.1:p.Gln461ArgfsTer?
XM_011517384.1:c.1382del XP_011515686.1:p.Gln461ArgfsTer?
XM_011517385.1:c.245del XP_011515687.1:p.Gln82ArgfsTer?
XR_928366.1:n.1423del
XR_928367.1:n.1423del
XR_928368.1:n.1425del
XM_011517384.3:c.1382del XP_011515686.1:p.Gln461ArgfsTer?
XM_017013991.2:c.1382del XP_016869480.1:p.Gln461ArgfsTer?
XM_017013992.2:c.1382del XP_016869481.1:p.Gln461ArgfsTer?
XM_017013993.2:c.1382del XP_016869482.1:p.Gln461ArgfsTer?
XM_017013994.2:c.1286del XP_016869483.1:p.Gln429ArgfsTer?
XM_017013995.2:c.1382del XP_016869484.1:p.Gln461ArgfsTer?
XM_017013996.2:c.1382del XP_016869485.1:p.Gln461ArgfsTer?
XM_017013997.2:c.1382del XP_016869486.1:p.Gln461ArgfsTer?
XM_017013998.1:c.1382del XP_016869487.1:p.Gln461ArgfsTer?
XM_017013999.2:c.1382del XP_016869488.1:p.Gln461ArgfsTer?
XM_017014000.1:c.245del XP_016869489.1:p.Gln82ArgfsTer?
XM_017014001.2:c.245del XP_016869490.1:p.Gln82ArgfsTer?
XR_001745626.2:n.1419del
XR_001745627.2:n.1419del
XR_001745628.2:n.1419del
XR_001745629.2:n.1419del
XR_001745630.2:n.1419del
NM_004260.4:c.1382del MANE Select NP_004251.4:p.Gln461ArgfsTer?