Canonical Allele Identifier: CA2499219203
Gene: RECQL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1122347
ClinVar RCV Id: RCV001453008
dbSNP Id: rs2130744877

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144517685_144517692del , CM000670.2:g.144517685_144517692del GRCh38
NC_000008.10:g.145743069_145743076del , CM000670.1:g.145743069_145743076del GRCh37
NC_000008.9:g.145713877_145713884del NCBI36
NG_016430.1:g.5135_5142del
NG_033083.1:g.4721_4728del
NG_016430.2:g.5135_5142del

Transcript Alleles

HGVS Amino-acid Change
ENST00000617875.6:c.84+9_84+16del MANE Select ENSP00000482313.2:n.84+9_84+16del
ENST00000617875.4:c.84+9_84+16del ENSP00000482313.1:n.84+9_84+16del
ENST00000621189.4:c.-1044_-1037del ENSP00000483145.1:n.-1044_-1037del
NM_004260.3:c.84+9_84+16del NP_004251.3:n.84+9_84+16del
XM_011517380.1:c.84+9_84+16del XP_011515682.1:n.84+9_84+16del
XM_011517381.1:c.84+9_84+16del XP_011515683.1:n.84+9_84+16del
XM_011517382.1:c.84+9_84+16del XP_011515684.1:n.84+9_84+16del
XM_011517383.1:c.84+9_84+16del XP_011515685.1:n.84+9_84+16del
XM_011517384.1:c.84+9_84+16del XP_011515686.1:n.84+9_84+16del
XR_928366.1:n.125+9_125+16del
XR_928367.1:n.125+9_125+16del
XR_928368.1:n.127+9_127+16del
XM_011517384.3:c.84+9_84+16del XP_011515686.1:n.84+9_84+16del
XM_017013991.2:c.84+9_84+16del XP_016869480.1:n.84+9_84+16del
XM_017013992.2:c.84+9_84+16del XP_016869481.1:n.84+9_84+16del
XM_017013993.2:c.84+9_84+16del XP_016869482.1:n.84+9_84+16del
XM_017013994.2:c.84+9_84+16del XP_016869483.1:n.84+9_84+16del
XM_017013995.2:c.84+9_84+16del XP_016869484.1:n.84+9_84+16del
XM_017013996.2:c.84+9_84+16del XP_016869485.1:n.84+9_84+16del
XM_017013997.2:c.84+9_84+16del XP_016869486.1:n.84+9_84+16del
XM_017013998.1:c.84+9_84+16del XP_016869487.1:n.84+9_84+16del
XM_017013999.2:c.84+9_84+16del XP_016869488.1:n.84+9_84+16del
XR_001745626.2:n.121+9_121+16del
XR_001745627.2:n.121+9_121+16del
XR_001745628.2:n.121+9_121+16del
XR_001745629.2:n.121+9_121+16del
XR_001745630.2:n.121+9_121+16del
NM_004260.4:c.84+9_84+16del MANE Select NP_004251.4:n.84+9_84+16del