Canonical Allele Identifier: CA1826368845
Gene: RECQL4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144516079_144516081delinsCGG , CM000670.2:g.144516079_144516081delinsCGG GRCh38
NC_000008.10:g.145741463_145741465delinsCGG , CM000670.1:g.145741463_145741465delinsCGG GRCh37
NC_000008.9:g.145712271_145712273delinsCGG NCBI36
NG_016430.1:g.6746_6748delinsCCG
NG_033083.1:g.3115_3117delinsCGG
NG_016430.2:g.6746_6748delinsCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000617875.6:c.1038_1040delinsCCG MANE Select ENSP00000482313.2:p.Ala346=
ENST00000524998.1:c.560_562delinsCCG
ENST00000617875.4:c.1038_1040delinsCCG ENSP00000482313.1:p.Ala346=
ENST00000621189.4:c.-34_-32delinsCCG ENSP00000483145.1:n.-34_-32delinsCCG
NM_004260.3:c.1038_1040delinsCCG NP_004251.3:p.Ala346=
XM_011517380.1:c.1038_1040delinsCCG XP_011515682.1:p.Ala346=
XM_011517381.1:c.954-12_954-10delinsCCG XP_011515683.1:n.954-12_954-10delinsCCG
XM_011517382.1:c.1038_1040delinsCCG XP_011515684.1:p.Ala346=
XM_011517383.1:c.1038_1040delinsCCG XP_011515685.1:p.Ala346=
XM_011517384.1:c.1038_1040delinsCCG XP_011515686.1:p.Ala346=
XR_928366.1:n.1079_1081delinsCCG
XR_928367.1:n.1079_1081delinsCCG
XR_928368.1:n.1081_1083delinsCCG
XM_011517384.3:c.1038_1040delinsCCG XP_011515686.1:p.Ala346=
XM_017013991.2:c.1038_1040delinsCCG XP_016869480.1:p.Ala346=
XM_017013992.2:c.1038_1040delinsCCG XP_016869481.1:p.Ala346=
XM_017013993.2:c.1038_1040delinsCCG XP_016869482.1:p.Ala346=
XM_017013994.2:c.954-12_954-10delinsCCG XP_016869483.1:n.954-12_954-10delinsCCG
XM_017013995.2:c.1038_1040delinsCCG XP_016869484.1:p.Ala346=
XM_017013996.2:c.1038_1040delinsCCG XP_016869485.1:p.Ala346=
XM_017013997.2:c.1038_1040delinsCCG XP_016869486.1:p.Ala346=
XM_017013998.1:c.1038_1040delinsCCG XP_016869487.1:p.Ala346=
XM_017013999.2:c.1038_1040delinsCCG XP_016869488.1:p.Ala346=
XM_017014001.2:c.-96_-94delinsCCG XP_016869490.1:n.-96_-94delinsCCG
XR_001745626.2:n.1075_1077delinsCCG
XR_001745627.2:n.1075_1077delinsCCG
XR_001745628.2:n.1075_1077delinsCCG
XR_001745629.2:n.1075_1077delinsCCG
XR_001745630.2:n.1075_1077delinsCCG
NM_004260.4:c.1038_1040delinsCCG MANE Select NP_004251.4:p.Ala346=