Canonical Allele Identifier: CA16612532
Gene: RECQL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 407029
ClinVar RCV Id: RCV000478302 RCV001584146
dbSNP Id: rs1060501383
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144514983_144514988delinsGGGGG , CM000670.2:g.144514983_144514988delinsGGGGG GRCh38
NC_000008.10:g.145740367_145740372delinsGGGGG , CM000670.1:g.145740367_145740372delinsGGGGG GRCh37
NC_000008.9:g.145711175_145711180delinsGGGGG NCBI36
NG_016430.1:g.7839_7844delinsCCCCC
NG_033083.1:g.2019_2024delinsGGGGG
NG_016430.2:g.7839_7844delinsCCCCC

Transcript Alleles

HGVS Amino-acid change
ENST00000688394.1:n.591_596delinsCCCCC
ENST00000617875.6:c.1568_1573delinsCCCCC MANE Select ENSP00000482313.2:p.Ser523ThrfsTer?
ENST00000532846.2:c.423_428delinsCCCCC
ENST00000617875.4:c.1568_1573delinsCCCCC ENSP00000482313.1:p.Ser523ThrfsTer?
ENST00000621189.4:c.497_502delinsCCCCC ENSP00000483145.1:p.Ser166ThrfsTer?
NM_004260.3:c.1568_1573delinsCCCCC NP_004251.3:p.Ser523ThrfsTer?
XM_011517380.1:c.1568_1573delinsCCCCC XP_011515682.1:p.Ser523ThrfsTer?
XM_011517381.1:c.1472_1477delinsCCCCC XP_011515683.1:p.Ser491ThrfsTer?
XM_011517382.1:c.1568_1573delinsCCCCC XP_011515684.1:p.Ser523ThrfsTer?
XM_011517383.1:c.1568_1573delinsCCCCC XP_011515685.1:p.Ser523ThrfsTer?
XM_011517384.1:c.1568_1573delinsCCCCC XP_011515686.1:p.Ser523ThrfsTer?
XM_011517385.1:c.431_436delinsCCCCC XP_011515687.1:p.Ser144ThrfsTer?
XR_928366.1:n.1609_1614delinsCCCCC
XR_928367.1:n.1609_1614delinsCCCCC
XR_928368.1:n.1611_1616delinsCCCCC
XM_011517384.3:c.1568_1573delinsCCCCC XP_011515686.1:p.Ser523ThrfsTer?
XM_017013991.2:c.1568_1573delinsCCCCC XP_016869480.1:p.Ser523ThrfsTer?
XM_017013992.2:c.1568_1573delinsCCCCC XP_016869481.1:p.Ser523ThrfsTer?
XM_017013993.2:c.1568_1573delinsCCCCC XP_016869482.1:p.Ser523ThrfsTer?
XM_017013994.2:c.1472_1477delinsCCCCC XP_016869483.1:p.Ser491ThrfsTer?
XM_017013995.2:c.1568_1573delinsCCCCC XP_016869484.1:p.Ser523ThrfsTer?
XM_017013996.2:c.1568_1573delinsCCCCC XP_016869485.1:p.Ser523ThrfsTer?
XM_017013997.2:c.1568_1573delinsCCCCC XP_016869486.1:p.Ser523ThrfsTer?
XM_017013998.1:c.1568_1573delinsCCCCC XP_016869487.1:p.Ser523ThrfsTer?
XM_017013999.2:c.1568_1573delinsCCCCC XP_016869488.1:p.Ser523ThrfsTer?
XM_017014000.1:c.431_436delinsCCCCC XP_016869489.1:p.Ser144ThrfsTer?
XM_017014001.2:c.431_436delinsCCCCC XP_016869490.1:p.Ser144ThrfsTer?
XR_001745626.2:n.1605_1610delinsCCCCC
XR_001745627.2:n.1605_1610delinsCCCCC
XR_001745628.2:n.1605_1610delinsCCCCC
XR_001745629.2:n.1605_1610delinsCCCCC
XR_001745630.2:n.1605_1610delinsCCCCC
NM_004260.4:c.1568_1573delinsCCCCC MANE Select NP_004251.4:p.Ser523ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'