Canonical Allele Identifier: CA653096154

Gene: RECQL4

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144517495_144517496insC , CM000670.2:g.144517495_144517496insC	GRCh38
NC_000008.10:g.145742879_145742880insC , CM000670.1:g.145742879_145742880insC	GRCh37
NC_000008.9:g.145713687_145713688insC	NCBI36
NG_016430.1:g.5331_5332insG
NG_033083.1:g.4531_4532insC
NG_016430.2:g.5331_5332insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.131_132insG MANE Select	ENSP00000482313.2:p.Tyr45IlefsTer?
ENST00000524998.1:c.4_5insG
ENST00000534270.1:n.77_78insG
ENST00000534538.1:c.85_86insG
ENST00000617875.4:c.131_132insG	ENSP00000482313.1:p.Tyr45IlefsTer?
ENST00000621189.4:c.-941_-940insG	ENSP00000483145.1:n.-941_-940insG
NM_004260.3:c.131_132insG	NP_004251.3:p.Tyr45IlefsTer?
XM_011517380.1:c.131_132insG	XP_011515682.1:p.Tyr45IlefsTer?
XM_011517381.1:c.131_132insG	XP_011515683.1:p.Tyr45IlefsTer?
XM_011517382.1:c.131_132insG	XP_011515684.1:p.Tyr45IlefsTer?
XM_011517383.1:c.131_132insG	XP_011515685.1:p.Tyr45IlefsTer?
XM_011517384.1:c.131_132insG	XP_011515686.1:p.Tyr45IlefsTer?
XR_928366.1:n.172_173insG
XR_928367.1:n.172_173insG
XR_928368.1:n.174_175insG
XM_011517384.3:c.131_132insG	XP_011515686.1:p.Tyr45IlefsTer?
XM_017013991.2:c.131_132insG	XP_016869480.1:p.Tyr45IlefsTer?
XM_017013992.2:c.131_132insG	XP_016869481.1:p.Tyr45IlefsTer?
XM_017013993.2:c.131_132insG	XP_016869482.1:p.Tyr45IlefsTer?
XM_017013994.2:c.131_132insG	XP_016869483.1:p.Tyr45IlefsTer?
XM_017013995.2:c.131_132insG	XP_016869484.1:p.Tyr45IlefsTer?
XM_017013996.2:c.131_132insG	XP_016869485.1:p.Tyr45IlefsTer?
XM_017013997.2:c.131_132insG	XP_016869486.1:p.Tyr45IlefsTer?
XM_017013998.1:c.131_132insG	XP_016869487.1:p.Tyr45IlefsTer?
XM_017013999.2:c.131_132insG	XP_016869488.1:p.Tyr45IlefsTer?
XM_017014001.2:c.-1003_-1002insG	XP_016869490.1:n.-1003_-1002insG
XR_001745626.2:n.168_169insG
XR_001745627.2:n.168_169insG
XR_001745628.2:n.168_169insG
XR_001745629.2:n.168_169insG
XR_001745630.2:n.168_169insG
NM_004260.4:c.131_132insG MANE Select	NP_004251.4:p.Tyr45IlefsTer?