Canonical Allele Identifier: CA1826365541

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144512018_144512021dup , CM000670.2:g.144512018_144512021dup	GRCh38
NC_000008.10:g.145737401_145737404dup , CM000670.1:g.145737401_145737404dup	GRCh37
NC_000008.9:g.145708209_145708212dup	NCBI36
NG_016430.1:g.10807_10810dup
NG_016430.2:g.10807_10810dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3284_3287dup MANE Select	ENSP00000482313.2:p.Ser1097AlafsTer14
ENST00000301323.7:c.301_304dup
ENST00000529424.2:n.50-231_50-228dup
ENST00000531875.2:c.530_533dup	ENSP00000477910.1:p.Ser179AlafsTer14
ENST00000617875.4:c.3284_3287dup	ENSP00000482313.1:p.Ser1097AlafsTer14
ENST00000621189.4:c.2213_2216dup	ENSP00000483145.1:p.Ser740AlafsTer14
NM_004260.3:c.3284_3287dup	NP_004251.3:p.Ser1097AlafsTer14
XM_011517380.1:c.3359_3362dup	XP_011515682.1:p.Ser1122AlafsTer14
XM_011517381.1:c.3263_3266dup	XP_011515683.1:p.Ser1090AlafsTer14
XM_011517382.1:c.3167_3170dup	XP_011515684.1:p.Ser1058AlafsTer14
XM_011517383.1:c.3161_3164dup	XP_011515685.1:p.Ser1056AlafsTer14
XM_011517384.1:c.3086_3089dup	XP_011515686.1:p.Ser1031AlafsTer14
XM_011517385.1:c.2222_2225dup	XP_011515687.1:p.Ser743AlafsTer14
XR_928366.1:n.3352+124_3352+127dup
XR_928367.1:n.3339_3342dup
XR_928368.1:n.3232_3235dup
XM_011517384.3:c.3086_3089dup	XP_011515686.1:p.Ser1031AlafsTer14
XM_017013991.2:c.3449_3452dup	XP_016869480.1:p.Ser1152AlafsTer14
XM_017013992.2:c.3374_3377dup	XP_016869481.1:p.Ser1127AlafsTer14
XM_017013993.2:c.3359_3362dup	XP_016869482.1:p.Ser1122AlafsTer14
XM_017013994.2:c.3353_3356dup	XP_016869483.1:p.Ser1120AlafsTer14
XM_017013995.2:c.3284_3287dup	XP_016869484.1:p.Ser1097AlafsTer14
XM_017013996.2:c.3449_3452dup	XP_016869485.1:p.Ser1152AlafsTer14
XM_017013997.2:c.3251_3254dup	XP_016869486.1:p.Ser1086AlafsTer14
XM_017013998.1:c.3374_3377dup	XP_016869487.1:p.Ser1127AlafsTer14
XM_017013999.2:c.3161_3164dup	XP_016869488.1:p.Ser1056AlafsTer14
XM_017014000.1:c.2312_2315dup	XP_016869489.1:p.Ser773AlafsTer14
XM_017014001.2:c.2222_2225dup	XP_016869490.1:p.Ser743AlafsTer14
XR_001745626.2:n.3438+124_3438+127dup
XR_001745627.2:n.3425_3428dup
XR_001745628.2:n.3316_3319dup
XR_001745629.2:n.3179_3182dup
XR_001745630.2:n.2981_2984dup
NM_004260.4:c.3284_3287dup MANE Select	NP_004251.4:p.Ser1097AlafsTer14