Canonical Allele Identifier: CA918391950

Gene: RECQL4

Linked Data

• dbSNP Id: rs1554896091

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511903del , CM000670.2:g.144511903del	GRCh38
NC_000008.10:g.145737286del , CM000670.1:g.145737286del	GRCh37
NC_000008.9:g.145708094del	NCBI36
NG_016430.1:g.10924del
NG_016430.2:g.10924del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3393+8del MANE Select	ENSP00000482313.2:n.3393+8del
ENST00000301323.7:c.410+8del
ENST00000529424.2:n.50-114del
ENST00000531875.2:c.647del	ENSP00000477910.1:p.Ala216AspfsTer19
ENST00000617875.4:c.3393+8del	ENSP00000482313.1:n.3393+8del
ENST00000621189.4:c.2322+8del	ENSP00000483145.1:n.2322+8del
NM_004260.3:c.3393+8del	NP_004251.3:n.3393+8del
XM_011517380.1:c.3468+8del	XP_011515682.1:n.3468+8del
XM_011517381.1:c.3372+8del	XP_011515683.1:n.3372+8del
XM_011517382.1:c.3276+8del	XP_011515684.1:n.3276+8del
XM_011517383.1:c.3270+8del	XP_011515685.1:n.3270+8del
XM_011517384.1:c.3195+8del	XP_011515686.1:n.3195+8del
XM_011517385.1:c.2331+8del	XP_011515687.1:n.2331+8del
XR_928366.1:n.3353-114del
XR_928367.1:n.3448+8del
XR_928368.1:n.3341+8del
XM_011517384.3:c.3195+8del	XP_011515686.1:n.3195+8del
XM_017013991.2:c.3566del	XP_016869480.1:p.Ala1189GlufsTer2
XM_017013992.2:c.3491del	XP_016869481.1:p.Ala1164GlufsTer2
XM_017013993.2:c.3476del	XP_016869482.1:p.Ala1159GlufsTer2
XM_017013994.2:c.3470del	XP_016869483.1:p.Ala1157GlufsTer2
XM_017013995.2:c.3401del	XP_016869484.1:p.Ala1134GlufsTer2
XM_017013996.2:c.3558+8del	XP_016869485.1:n.3558+8del
XM_017013997.2:c.3368del	XP_016869486.1:p.Ala1123GlufsTer2
XM_017013998.1:c.3483+8del	XP_016869487.1:n.3483+8del
XM_017013999.2:c.3278del	XP_016869488.1:p.Ala1093GlufsTer2
XM_017014000.1:c.2429del	XP_016869489.1:p.Ala810GlufsTer2
XM_017014001.2:c.2339del	XP_016869490.1:p.Ala780GlufsTer2
XR_001745626.2:n.3439-114del
XR_001745627.2:n.3534+8del
XR_001745628.2:n.3425+8del
XR_001745629.2:n.3288+8del
XR_001745630.2:n.3090+8del
NM_004260.4:c.3393+8del MANE Select	NP_004251.4:n.3393+8del