Canonical Allele Identifier: CA161837
Gene: RECQL4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144513042_144513047del , CM000670.2:g.144513042_144513047del GRCh38
NC_000008.10:g.145738425_145738430del , CM000670.1:g.145738425_145738430del GRCh37
NC_000008.9:g.145709233_145709238del NCBI36
NG_016430.1:g.9794_9799del
NG_033083.1:g.77_82del
NG_016430.2:g.9794_9799del

Transcript Alleles

HGVS Amino-acid Change
ENST00000617875.6:c.2569_2574del MANE Select ENSP00000482313.2:p.Cys857_Thr858del
ENST00000534626.6:c.740_745del
ENST00000617875.4:c.2569_2574del ENSP00000482313.1:p.Cys857_Thr858del
ENST00000621189.4:c.1498_1503del ENSP00000483145.1:p.Cys500_Thr501del
NM_004260.3:c.2569_2574del NP_004251.3:p.Cys857_Thr858del
XM_011517380.1:c.2569_2574del XP_011515682.1:p.Cys857_Thr858del
XM_011517381.1:c.2473_2478del XP_011515683.1:p.Cys825_Thr826del
XM_011517382.1:c.2377_2382del XP_011515684.1:p.Cys793_Thr794del
XM_011517383.1:c.2371_2376del XP_011515685.1:p.Cys791_Thr792del
XM_011517384.1:c.2371_2376del XP_011515686.1:p.Cys791_Thr792del
XM_011517385.1:c.1432_1437del XP_011515687.1:p.Cys478_Thr479del
XR_928366.1:n.2610_2615del
XR_928367.1:n.2610_2615del
XR_928368.1:n.2612_2617del
XM_011517384.3:c.2371_2376del XP_011515686.1:p.Cys791_Thr792del
XM_017013991.2:c.2659_2664del XP_016869480.1:p.Cys887_Thr888del
XM_017013992.2:c.2659_2664del XP_016869481.1:p.Cys887_Thr888del
XM_017013993.2:c.2569_2574del XP_016869482.1:p.Cys857_Thr858del
XM_017013994.2:c.2563_2568del XP_016869483.1:p.Cys855_Thr856del
XM_017013995.2:c.2569_2574del XP_016869484.1:p.Cys857_Thr858del
XM_017013996.2:c.2659_2664del XP_016869485.1:p.Cys887_Thr888del
XM_017013997.2:c.2461_2466del XP_016869486.1:p.Cys821_Thr822del
XM_017013998.1:c.2659_2664del XP_016869487.1:p.Cys887_Thr888del
XM_017013999.2:c.2371_2376del XP_016869488.1:p.Cys791_Thr792del
XM_017014000.1:c.1522_1527del XP_016869489.1:p.Cys508_Thr509del
XM_017014001.2:c.1432_1437del XP_016869490.1:p.Cys478_Thr479del
XR_001745626.2:n.2696_2701del
XR_001745627.2:n.2696_2701del
XR_001745628.2:n.2696_2701del
XR_001745629.2:n.2464_2469del
XR_001745630.2:n.2266_2271del
NM_004260.4:c.2569_2574del MANE Select NP_004251.4:p.Cys857_Thr858del