Canonical Allele Identifier: CA3135784422

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144512247_144512253delinsTGGTCAG , CM000670.2:g.144512247_144512253delinsTGGTCAG	GRCh38
NC_000008.10:g.145737630_145737636delinsTGGTCAG , CM000670.1:g.145737630_145737636delinsTGGTCAG	GRCh37
NC_000008.9:g.145708438_145708444delinsTGGTCAG	NCBI36
NG_016430.2:g.10574_10580delinsCTGACCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3127_3133delinsCTGACCA MANE Select	ENSP00000482313.2:p.Ala1045Thr
ENST00000301323.7:c.144_150delinsCTGACCA
ENST00000529424.2:n.49+72_49+78delinsCTGACCA
ENST00000531875.2:c.373_379delinsCTGACCA	ENSP00000477910.1:p.Ala127Thr
ENST00000617875.4:c.3127_3133delinsCTGACCA	ENSP00000482313.1:p.Ala1045Thr
ENST00000621189.4:c.2056_2062delinsCTGACCA	ENSP00000483145.1:p.Ala688Thr
XM_011517380.1:c.3202_3208delinsCTGACCA	XP_011515682.1:p.Ala1070Thr
XM_011517381.1:c.3106_3112delinsCTGACCA	XP_011515683.1:p.Ala1038Thr
XM_011517382.1:c.3010_3016delinsCTGACCA	XP_011515684.1:p.Ala1006Thr
XM_011517383.1:c.3004_3010delinsCTGACCA	XP_011515685.1:p.Ala1004Thr
XM_011517384.1:c.2929_2935delinsCTGACCA	XP_011515686.1:p.Ala979Thr
XM_011517385.1:c.2065_2071delinsCTGACCA	XP_011515687.1:p.Ala691Thr
XR_928366.1:n.3243_3249delinsCTGACCA
XR_928367.1:n.3182_3188delinsCTGACCA
XR_928368.1:n.3075_3081delinsCTGACCA
XM_011517384.3:c.2929_2935delinsCTGACCA	XP_011515686.1:p.Ala979Thr
XM_017013991.2:c.3292_3298delinsCTGACCA	XP_016869480.1:p.Ala1100Thr
XM_017013992.2:c.3217_3223delinsCTGACCA	XP_016869481.1:p.Ala1075Thr
XM_017013993.2:c.3202_3208delinsCTGACCA	XP_016869482.1:p.Ala1070Thr
XM_017013994.2:c.3196_3202delinsCTGACCA	XP_016869483.1:p.Ala1068Thr
XM_017013995.2:c.3127_3133delinsCTGACCA	XP_016869484.1:p.Ala1045Thr
XM_017013996.2:c.3292_3298delinsCTGACCA	XP_016869485.1:p.Ala1100Thr
XM_017013997.2:c.3094_3100delinsCTGACCA	XP_016869486.1:p.Ala1034Thr
XM_017013998.1:c.3217_3223delinsCTGACCA	XP_016869487.1:p.Ala1075Thr
XM_017013999.2:c.3004_3010delinsCTGACCA	XP_016869488.1:p.Ala1004Thr
XM_017014000.1:c.2155_2161delinsCTGACCA	XP_016869489.1:p.Ala721Thr
XM_017014001.2:c.2065_2071delinsCTGACCA	XP_016869490.1:p.Ala691Thr
XR_001745626.2:n.3329_3335delinsCTGACCA
XR_001745627.2:n.3268_3274delinsCTGACCA
XR_001745628.2:n.3159_3165delinsCTGACCA
XR_001745629.2:n.3022_3028delinsCTGACCA
XR_001745630.2:n.2824_2830delinsCTGACCA
NM_004260.4:c.3127_3133delinsCTGACCA MANE Select	NP_004251.4:p.Ala1045Thr