Canonical Allele Identifier: CA4949416
Community Standard Title: NM_004260.4(RECQL4):c.221_222del (p.Glu74AlafsTer?)
Gene: RECQL4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144517184_144517185del , CM000670.2:g.144517184_144517185del GRCh38
NC_000008.10:g.145742568_145742569del , CM000670.1:g.145742568_145742569del GRCh37
NC_000008.9:g.145713376_145713377del NCBI36
NG_016430.1:g.5644_5645del
NG_033083.1:g.4220_4221del
NG_016430.2:g.5644_5645del

Transcript Alleles

HGVS Amino-acid Change
NM_004260.4:c.221_222del MANE Select NP_004251.4:p.Glu74AlafsTer?
ENST00000617875.6:c.221_222del MANE Select ENSP00000482313.2:p.Glu74AlafsTer?
NM_004260.3:c.221_222del NP_004251.3:p.Glu74AlafsTer?
ENST00000524998.1:c.94_95del
ENST00000534270.1:n.167_168del
ENST00000534538.1:c.175_176del
ENST00000617875.4:c.221_222del ENSP00000482313.1:p.Glu74AlafsTer?
ENST00000621189.4:c.-851_-850del ENSP00000483145.1:n.-851_-850del
XM_011517380.1:c.221_222del XP_011515682.1:p.Glu74AlafsTer?
XM_011517381.1:c.221_222del XP_011515683.1:p.Glu74AlafsTer?
XM_011517382.1:c.221_222del XP_011515684.1:p.Glu74AlafsTer?
XM_011517383.1:c.221_222del XP_011515685.1:p.Glu74AlafsTer?
XM_011517384.1:c.221_222del XP_011515686.1:p.Glu74AlafsTer?
XM_011517384.3:c.221_222del XP_011515686.1:p.Glu74AlafsTer?
XM_017013991.2:c.221_222del XP_016869480.1:p.Glu74AlafsTer?
XM_017013992.2:c.221_222del XP_016869481.1:p.Glu74AlafsTer?
XM_017013993.2:c.221_222del XP_016869482.1:p.Glu74AlafsTer?
XM_017013994.2:c.221_222del XP_016869483.1:p.Glu74AlafsTer?
XM_017013995.2:c.221_222del XP_016869484.1:p.Glu74AlafsTer?
XM_017013996.2:c.221_222del XP_016869485.1:p.Glu74AlafsTer?
XM_017013997.2:c.221_222del XP_016869486.1:p.Glu74AlafsTer?
XM_017013998.1:c.221_222del XP_016869487.1:p.Glu74AlafsTer?
XM_017013999.2:c.221_222del XP_016869488.1:p.Glu74AlafsTer?
XM_017014001.2:c.-913_-912del XP_016869490.1:n.-913_-912del
XR_001745626.2:n.258_259del
XR_001745627.2:n.258_259del
XR_001745628.2:n.258_259del
XR_001745629.2:n.258_259del
XR_001745630.2:n.258_259del
XR_928366.1:n.262_263del
XR_928367.1:n.262_263del
XR_928368.1:n.264_265del