Canonical Allele Identifier: CA918391948

Gene: RECQL4

Linked Data

• dbSNP Id: rs1554896083

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511902_144511903delinsC , CM000670.2:g.144511902_144511903delinsC	GRCh38
NC_000008.10:g.145737285_145737286delinsC , CM000670.1:g.145737285_145737286delinsC	GRCh37
NC_000008.9:g.145708093_145708094delinsC	NCBI36
NG_016430.1:g.10924_10925delinsG
NG_016430.2:g.10924_10925delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3393+8_3393+9delinsG MANE Select	ENSP00000482313.2:n.3393+8_3393+9delinsG
ENST00000301323.7:c.410+8_410+9delinsG
ENST00000529424.2:n.50-114_50-113delinsG
ENST00000531875.2:c.647_648delinsG	ENSP00000477910.1:p.Ala216GlyfsTer19
ENST00000617875.4:c.3393+8_3393+9delinsG	ENSP00000482313.1:n.3393+8_3393+9delinsG
ENST00000621189.4:c.2322+8_2322+9delinsG	ENSP00000483145.1:n.2322+8_2322+9delinsG
NM_004260.3:c.3393+8_3393+9delinsG	NP_004251.3:n.3393+8_3393+9delinsG
XM_011517380.1:c.3468+8_3468+9delinsG	XP_011515682.1:n.3468+8_3468+9delinsG
XM_011517381.1:c.3372+8_3372+9delinsG	XP_011515683.1:n.3372+8_3372+9delinsG
XM_011517382.1:c.3276+8_3276+9delinsG	XP_011515684.1:n.3276+8_3276+9delinsG
XM_011517383.1:c.3270+8_3270+9delinsG	XP_011515685.1:n.3270+8_3270+9delinsG
XM_011517384.1:c.3195+8_3195+9delinsG	XP_011515686.1:n.3195+8_3195+9delinsG
XM_011517385.1:c.2331+8_2331+9delinsG	XP_011515687.1:n.2331+8_2331+9delinsG
XR_928366.1:n.3353-114_3353-113delinsG
XR_928367.1:n.3448+8_3448+9delinsG
XR_928368.1:n.3341+8_3341+9delinsG
XM_011517384.3:c.3195+8_3195+9delinsG	XP_011515686.1:n.3195+8_3195+9delinsG
XM_017013991.2:c.3566_3567delinsG	XP_016869480.1:p.Ala1189GlyfsTer2
XM_017013992.2:c.3491_3492delinsG	XP_016869481.1:p.Ala1164GlyfsTer2
XM_017013993.2:c.3476_3477delinsG	XP_016869482.1:p.Ala1159GlyfsTer2
XM_017013994.2:c.3470_3471delinsG	XP_016869483.1:p.Ala1157GlyfsTer2
XM_017013995.2:c.3401_3402delinsG	XP_016869484.1:p.Ala1134GlyfsTer2
XM_017013996.2:c.3558+8_3558+9delinsG	XP_016869485.1:n.3558+8_3558+9delinsG
XM_017013997.2:c.3368_3369delinsG	XP_016869486.1:p.Ala1123GlyfsTer2
XM_017013998.1:c.3483+8_3483+9delinsG	XP_016869487.1:n.3483+8_3483+9delinsG
XM_017013999.2:c.3278_3279delinsG	XP_016869488.1:p.Ala1093GlyfsTer2
XM_017014000.1:c.2429_2430delinsG	XP_016869489.1:p.Ala810GlyfsTer2
XM_017014001.2:c.2339_2340delinsG	XP_016869490.1:p.Ala780GlyfsTer2
XR_001745626.2:n.3439-114_3439-113delinsG
XR_001745627.2:n.3534+8_3534+9delinsG
XR_001745628.2:n.3425+8_3425+9delinsG
XR_001745629.2:n.3288+8_3288+9delinsG
XR_001745630.2:n.3090+8_3090+9delinsG
NM_004260.4:c.3393+8_3393+9delinsG MANE Select	NP_004251.4:n.3393+8_3393+9delinsG