Canonical Allele Identifier: CA1826365412

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511861_144511862delinsGC , CM000670.2:g.144511861_144511862delinsGC	GRCh38
NC_000008.10:g.145737244_145737245delinsGC , CM000670.1:g.145737244_145737245delinsGC	GRCh37
NC_000008.9:g.145708052_145708053delinsGC	NCBI36
NG_016430.1:g.10965_10966delinsGC
NG_016430.2:g.10965_10966delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3393+49_3393+50delinsGC MANE Select	ENSP00000482313.2:n.3393+49_3393+50delinsGC
ENST00000301323.7:c.410+49_410+50delinsGC
ENST00000529424.2:n.50-73_50-72delinsGC
ENST00000531875.2:c.648+40_648+41delinsGC	ENSP00000477910.1:n.648+40_648+41delinsGC
ENST00000617875.4:c.3393+49_3393+50delinsGC	ENSP00000482313.1:n.3393+49_3393+50delinsGC
ENST00000621189.4:c.2322+49_2322+50delinsGC	ENSP00000483145.1:n.2322+49_2322+50delinsGC
NM_004260.3:c.3393+49_3393+50delinsGC	NP_004251.3:n.3393+49_3393+50delinsGC
XM_011517380.1:c.3468+49_3468+50delinsGC	XP_011515682.1:n.3468+49_3468+50delinsGC
XM_011517381.1:c.3372+49_3372+50delinsGC	XP_011515683.1:n.3372+49_3372+50delinsGC
XM_011517382.1:c.3276+49_3276+50delinsGC	XP_011515684.1:n.3276+49_3276+50delinsGC
XM_011517383.1:c.3270+49_3270+50delinsGC	XP_011515685.1:n.3270+49_3270+50delinsGC
XM_011517384.1:c.3195+49_3195+50delinsGC	XP_011515686.1:n.3195+49_3195+50delinsGC
XM_011517385.1:c.2331+49_2331+50delinsGC	XP_011515687.1:n.2331+49_2331+50delinsGC
XR_928366.1:n.3353-73_3353-72delinsGC
XR_928367.1:n.3448+49_3448+50delinsGC
XR_928368.1:n.3341+49_3341+50delinsGC
XM_011517384.3:c.3195+49_3195+50delinsGC	XP_011515686.1:n.3195+49_3195+50delinsGC
XM_017013991.2:c.3607_3608delinsGC	XP_016869480.1:p.Ala1203=
XM_017013992.2:c.3532_3533delinsGC	XP_016869481.1:p.Ala1178=
XM_017013993.2:c.3517_3518delinsGC	XP_016869482.1:p.Ala1173=
XM_017013994.2:c.3511_3512delinsGC	XP_016869483.1:p.Ala1171=
XM_017013995.2:c.3442_3443delinsGC	XP_016869484.1:p.Ala1148=
XM_017013996.2:c.3558+49_3558+50delinsGC	XP_016869485.1:n.3558+49_3558+50delinsGC
XM_017013997.2:c.3409_3410delinsGC	XP_016869486.1:p.Ala1137=
XM_017013998.1:c.3483+49_3483+50delinsGC	XP_016869487.1:n.3483+49_3483+50delinsGC
XM_017013999.2:c.3319_3320delinsGC	XP_016869488.1:p.Ala1107=
XM_017014000.1:c.2470_2471delinsGC	XP_016869489.1:p.Ala824=
XM_017014001.2:c.2380_2381delinsGC	XP_016869490.1:p.Ala794=
XR_001745626.2:n.3439-73_3439-72delinsGC
XR_001745627.2:n.3534+49_3534+50delinsGC
XR_001745628.2:n.3425+49_3425+50delinsGC
XR_001745629.2:n.3288+49_3288+50delinsGC
XR_001745630.2:n.3090+49_3090+50delinsGC
NM_004260.4:c.3393+49_3393+50delinsGC MANE Select	NP_004251.4:n.3393+49_3393+50delinsGC