Canonical Allele Identifier: CA1826365410

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511860_144511861delinsAG , CM000670.2:g.144511860_144511861delinsAG	GRCh38
NC_000008.10:g.145737243_145737244delinsAG , CM000670.1:g.145737243_145737244delinsAG	GRCh37
NC_000008.9:g.145708051_145708052delinsAG	NCBI36
NG_016430.1:g.10966_10967delinsCT
NG_016430.2:g.10966_10967delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3393+50_3393+51delinsCT MANE Select	ENSP00000482313.2:n.3393+50_3393+51delinsCT
ENST00000301323.7:c.410+50_410+51delinsCT
ENST00000529424.2:n.50-72_50-71delinsCT
ENST00000531875.2:c.648+41_648+42delinsCT	ENSP00000477910.1:n.648+41_648+42delinsCT
ENST00000617875.4:c.3393+50_3393+51delinsCT	ENSP00000482313.1:n.3393+50_3393+51delinsCT
ENST00000621189.4:c.2322+50_2322+51delinsCT	ENSP00000483145.1:n.2322+50_2322+51delinsCT
NM_004260.3:c.3393+50_3393+51delinsCT	NP_004251.3:n.3393+50_3393+51delinsCT
XM_011517380.1:c.3468+50_3468+51delinsCT	XP_011515682.1:n.3468+50_3468+51delinsCT
XM_011517381.1:c.3372+50_3372+51delinsCT	XP_011515683.1:n.3372+50_3372+51delinsCT
XM_011517382.1:c.3276+50_3276+51delinsCT	XP_011515684.1:n.3276+50_3276+51delinsCT
XM_011517383.1:c.3270+50_3270+51delinsCT	XP_011515685.1:n.3270+50_3270+51delinsCT
XM_011517384.1:c.3195+50_3195+51delinsCT	XP_011515686.1:n.3195+50_3195+51delinsCT
XM_011517385.1:c.2331+50_2331+51delinsCT	XP_011515687.1:n.2331+50_2331+51delinsCT
XR_928366.1:n.3353-72_3353-71delinsCT
XR_928367.1:n.3448+50_3448+51delinsCT
XR_928368.1:n.3341+50_3341+51delinsCT
XM_011517384.3:c.3195+50_3195+51delinsCT	XP_011515686.1:n.3195+50_3195+51delinsCT
XM_017013991.2:c.3608_3609delinsCT	XP_016869480.1:p.Ala1203=
XM_017013992.2:c.3533_3534delinsCT	XP_016869481.1:p.Ala1178=
XM_017013993.2:c.3518_3519delinsCT	XP_016869482.1:p.Ala1173=
XM_017013994.2:c.3512_3513delinsCT	XP_016869483.1:p.Ala1171=
XM_017013995.2:c.3443_3444delinsCT	XP_016869484.1:p.Ala1148=
XM_017013996.2:c.3558+50_3558+51delinsCT	XP_016869485.1:n.3558+50_3558+51delinsCT
XM_017013997.2:c.3410_3411delinsCT	XP_016869486.1:p.Ala1137=
XM_017013998.1:c.3483+50_3483+51delinsCT	XP_016869487.1:n.3483+50_3483+51delinsCT
XM_017013999.2:c.3320_3321delinsCT	XP_016869488.1:p.Ala1107=
XM_017014000.1:c.2471_2472delinsCT	XP_016869489.1:p.Ala824=
XM_017014001.2:c.2381_2382delinsCT	XP_016869490.1:p.Ala794=
XR_001745626.2:n.3439-72_3439-71delinsCT
XR_001745627.2:n.3534+50_3534+51delinsCT
XR_001745628.2:n.3425+50_3425+51delinsCT
XR_001745629.2:n.3288+50_3288+51delinsCT
XR_001745630.2:n.3090+50_3090+51delinsCT
NM_004260.4:c.3393+50_3393+51delinsCT MANE Select	NP_004251.4:n.3393+50_3393+51delinsCT