Canonical Allele Identifier: CA2573142944
Gene: RECQL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1459922
ClinVar RCV Id: RCV001982936
dbSNP Id: rs2130729321

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144516704_144516720del , CM000670.2:g.144516704_144516720del GRCh38
NC_000008.10:g.145742088_145742104del , CM000670.1:g.145742088_145742104del GRCh37
NC_000008.9:g.145712896_145712912del NCBI36
NG_016430.1:g.6108_6124del
NG_033083.1:g.3740_3756del
NG_016430.2:g.6108_6124del

Transcript Alleles

HGVS Amino-acid Change
ENST00000617875.6:c.400_416del MANE Select ENSP00000482313.2:p.Ser134ProfsTer18
ENST00000524998.1:c.228-306_228-290del
ENST00000534538.1:c.309-58_309-42del
ENST00000617875.4:c.400_416del ENSP00000482313.1:p.Ser134ProfsTer18
ENST00000621189.4:c.-672_-656del ENSP00000483145.1:n.-672_-656del
NM_004260.3:c.400_416del NP_004251.3:p.Ser134ProfsTer18
XM_011517380.1:c.400_416del XP_011515682.1:p.Ser134ProfsTer18
XM_011517381.1:c.400_416del XP_011515683.1:p.Ser134ProfsTer18
XM_011517382.1:c.400_416del XP_011515684.1:p.Ser134ProfsTer18
XM_011517383.1:c.400_416del XP_011515685.1:p.Ser134ProfsTer18
XM_011517384.1:c.400_416del XP_011515686.1:p.Ser134ProfsTer18
XR_928366.1:n.441_457del
XR_928367.1:n.441_457del
XR_928368.1:n.443_459del
XM_011517384.3:c.400_416del XP_011515686.1:p.Ser134ProfsTer18
XM_017013991.2:c.400_416del XP_016869480.1:p.Ser134ProfsTer18
XM_017013992.2:c.400_416del XP_016869481.1:p.Ser134ProfsTer18
XM_017013993.2:c.400_416del XP_016869482.1:p.Ser134ProfsTer18
XM_017013994.2:c.400_416del XP_016869483.1:p.Ser134ProfsTer18
XM_017013995.2:c.400_416del XP_016869484.1:p.Ser134ProfsTer18
XM_017013996.2:c.400_416del XP_016869485.1:p.Ser134ProfsTer18
XM_017013997.2:c.400_416del XP_016869486.1:p.Ser134ProfsTer18
XM_017013998.1:c.400_416del XP_016869487.1:p.Ser134ProfsTer18
XM_017013999.2:c.400_416del XP_016869488.1:p.Ser134ProfsTer18
XM_017014001.2:c.-734_-718del XP_016869490.1:n.-734_-718del
XR_001745626.2:n.437_453del
XR_001745627.2:n.437_453del
XR_001745628.2:n.437_453del
XR_001745629.2:n.437_453del
XR_001745630.2:n.437_453del
NM_004260.4:c.400_416del MANE Select NP_004251.4:p.Ser134ProfsTer18