Canonical Allele Identifier: CA16618614
Gene: RECQL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 423196
dbSNP Id: rs1064796290

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144516367del , CM000670.2:g.144516367del GRCh38
NC_000008.10:g.145741751del , CM000670.1:g.145741751del GRCh37
NC_000008.9:g.145712559del NCBI36
NG_016430.1:g.6460del
NG_033083.1:g.3403del
NG_016430.2:g.6460del

Transcript Alleles

HGVS Amino-acid change
ENST00000617875.6:c.752del MANE Select ENSP00000482313.2:p.Ser251ThrfsTer?
ENST00000524998.1:c.274del
ENST00000534538.1:c.603del
ENST00000617875.4:c.752del ENSP00000482313.1:p.Ser251ThrfsTer?
ENST00000621189.4:c.-320del ENSP00000483145.1:n.-320del
NM_004260.3:c.752del NP_004251.3:p.Ser251ThrfsTer?
XM_011517380.1:c.752del XP_011515682.1:p.Ser251ThrfsTer?
XM_011517381.1:c.752del XP_011515683.1:p.Ser251ThrfsTer?
XM_011517382.1:c.752del XP_011515684.1:p.Ser251ThrfsTer?
XM_011517383.1:c.752del XP_011515685.1:p.Ser251ThrfsTer?
XM_011517384.1:c.752del XP_011515686.1:p.Ser251ThrfsTer?
XR_928366.1:n.793del
XR_928367.1:n.793del
XR_928368.1:n.795del
XM_011517384.3:c.752del XP_011515686.1:p.Ser251ThrfsTer?
XM_017013991.2:c.752del XP_016869480.1:p.Ser251ThrfsTer?
XM_017013992.2:c.752del XP_016869481.1:p.Ser251ThrfsTer?
XM_017013993.2:c.752del XP_016869482.1:p.Ser251ThrfsTer?
XM_017013994.2:c.752del XP_016869483.1:p.Ser251ThrfsTer?
XM_017013995.2:c.752del XP_016869484.1:p.Ser251ThrfsTer?
XM_017013996.2:c.752del XP_016869485.1:p.Ser251ThrfsTer?
XM_017013997.2:c.752del XP_016869486.1:p.Ser251ThrfsTer?
XM_017013998.1:c.752del XP_016869487.1:p.Ser251ThrfsTer?
XM_017013999.2:c.752del XP_016869488.1:p.Ser251ThrfsTer?
XM_017014001.2:c.-382del XP_016869490.1:n.-382del
XR_001745626.2:n.789del
XR_001745627.2:n.789del
XR_001745628.2:n.789del
XR_001745629.2:n.789del
XR_001745630.2:n.789del
NM_004260.4:c.752del MANE Select NP_004251.4:p.Ser251ThrfsTer?