Canonical Allele Identifier: CA1826368622

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515818_144515819delinsAC , CM000670.2:g.144515818_144515819delinsAC	GRCh38
NC_000008.10:g.145741202_145741203delinsAC , CM000670.1:g.145741202_145741203delinsAC	GRCh37
NC_000008.9:g.145712010_145712011delinsAC	NCBI36
NG_016430.1:g.7008_7009delinsGT
NG_033083.1:g.2854_2855delinsAC
NG_016430.2:g.7008_7009delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.1203_1204delinsGT MANE Select	ENSP00000482313.2:p.Glu401=
ENST00000532846.2:c.88_89delinsGT
ENST00000617875.4:c.1203_1204delinsGT	ENSP00000482313.1:p.Glu401=
ENST00000621189.4:c.132_133delinsGT	ENSP00000483145.1:p.Glu44=
NM_004260.3:c.1203_1204delinsGT	NP_004251.3:p.Glu401=
XM_011517380.1:c.1203_1204delinsGT	XP_011515682.1:p.Glu401=
XM_011517381.1:c.1107_1108delinsGT	XP_011515683.1:p.Glu369=
XM_011517382.1:c.1203_1204delinsGT	XP_011515684.1:p.Glu401=
XM_011517383.1:c.1203_1204delinsGT	XP_011515685.1:p.Glu401=
XM_011517384.1:c.1203_1204delinsGT	XP_011515686.1:p.Glu401=
XM_011517385.1:c.70_71delinsGT	XP_011515687.1:p.Val24=
XR_928366.1:n.1244_1245delinsGT
XR_928367.1:n.1244_1245delinsGT
XR_928368.1:n.1246_1247delinsGT
XM_011517384.3:c.1203_1204delinsGT	XP_011515686.1:p.Glu401=
XM_017013991.2:c.1203_1204delinsGT	XP_016869480.1:p.Glu401=
XM_017013992.2:c.1203_1204delinsGT	XP_016869481.1:p.Glu401=
XM_017013993.2:c.1203_1204delinsGT	XP_016869482.1:p.Glu401=
XM_017013994.2:c.1107_1108delinsGT	XP_016869483.1:p.Glu369=
XM_017013995.2:c.1203_1204delinsGT	XP_016869484.1:p.Glu401=
XM_017013996.2:c.1203_1204delinsGT	XP_016869485.1:p.Glu401=
XM_017013997.2:c.1203_1204delinsGT	XP_016869486.1:p.Glu401=
XM_017013998.1:c.1203_1204delinsGT	XP_016869487.1:p.Glu401=
XM_017013999.2:c.1203_1204delinsGT	XP_016869488.1:p.Glu401=
XM_017014000.1:c.70_71delinsGT	XP_016869489.1:p.Val24=
XM_017014001.2:c.70_71delinsGT	XP_016869490.1:p.Val24=
XR_001745626.2:n.1240_1241delinsGT
XR_001745627.2:n.1240_1241delinsGT
XR_001745628.2:n.1240_1241delinsGT
XR_001745629.2:n.1240_1241delinsGT
XR_001745630.2:n.1240_1241delinsGT
NM_004260.4:c.1203_1204delinsGT MANE Select	NP_004251.4:p.Glu401=