Canonical Allele Identifier: CA1826365443

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511901_144511903delinsCTG , CM000670.2:g.144511901_144511903delinsCTG	GRCh38
NC_000008.10:g.145737284_145737286delinsCTG , CM000670.1:g.145737284_145737286delinsCTG	GRCh37
NC_000008.9:g.145708092_145708094delinsCTG	NCBI36
NG_016430.1:g.10924_10926delinsCAG
NG_016430.2:g.10924_10926delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3393+8_3393+10delinsCAG MANE Select	ENSP00000482313.2:n.3393+8_3393+10delinsCAG
ENST00000301323.7:c.410+8_410+10delinsCAG
ENST00000529424.2:n.50-114_50-112delinsCAG
ENST00000531875.2:c.647_648+1delinsCAG
ENST00000617875.4:c.3393+8_3393+10delinsCAG	ENSP00000482313.1:n.3393+8_3393+10delinsCAG
ENST00000621189.4:c.2322+8_2322+10delinsCAG	ENSP00000483145.1:n.2322+8_2322+10delinsCAG
NM_004260.3:c.3393+8_3393+10delinsCAG	NP_004251.3:n.3393+8_3393+10delinsCAG
XM_011517380.1:c.3468+8_3468+10delinsCAG	XP_011515682.1:n.3468+8_3468+10delinsCAG
XM_011517381.1:c.3372+8_3372+10delinsCAG	XP_011515683.1:n.3372+8_3372+10delinsCAG
XM_011517382.1:c.3276+8_3276+10delinsCAG	XP_011515684.1:n.3276+8_3276+10delinsCAG
XM_011517383.1:c.3270+8_3270+10delinsCAG	XP_011515685.1:n.3270+8_3270+10delinsCAG
XM_011517384.1:c.3195+8_3195+10delinsCAG	XP_011515686.1:n.3195+8_3195+10delinsCAG
XM_011517385.1:c.2331+8_2331+10delinsCAG	XP_011515687.1:n.2331+8_2331+10delinsCAG
XR_928366.1:n.3353-114_3353-112delinsCAG
XR_928367.1:n.3448+8_3448+10delinsCAG
XR_928368.1:n.3341+8_3341+10delinsCAG
XM_011517384.3:c.3195+8_3195+10delinsCAG	XP_011515686.1:n.3195+8_3195+10delinsCAG
XM_017013991.2:c.3566_3568delinsCAG	XP_016869480.1:p.Ala1189=
XM_017013992.2:c.3491_3493delinsCAG	XP_016869481.1:p.Ala1164=
XM_017013993.2:c.3476_3478delinsCAG	XP_016869482.1:p.Ala1159=
XM_017013994.2:c.3470_3472delinsCAG	XP_016869483.1:p.Ala1157=
XM_017013995.2:c.3401_3403delinsCAG	XP_016869484.1:p.Ala1134=
XM_017013996.2:c.3558+8_3558+10delinsCAG	XP_016869485.1:n.3558+8_3558+10delinsCAG
XM_017013997.2:c.3368_3370delinsCAG	XP_016869486.1:p.Ala1123=
XM_017013998.1:c.3483+8_3483+10delinsCAG	XP_016869487.1:n.3483+8_3483+10delinsCAG
XM_017013999.2:c.3278_3280delinsCAG	XP_016869488.1:p.Ala1093=
XM_017014000.1:c.2429_2431delinsCAG	XP_016869489.1:p.Ala810=
XM_017014001.2:c.2339_2341delinsCAG	XP_016869490.1:p.Ala780=
XR_001745626.2:n.3439-114_3439-112delinsCAG
XR_001745627.2:n.3534+8_3534+10delinsCAG
XR_001745628.2:n.3425+8_3425+10delinsCAG
XR_001745629.2:n.3288+8_3288+10delinsCAG
XR_001745630.2:n.3090+8_3090+10delinsCAG
NM_004260.4:c.3393+8_3393+10delinsCAG MANE Select	NP_004251.4:n.3393+8_3393+10delinsCAG