Canonical Allele Identifier: CA2573142929

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 1487494
• ClinVar RCV Id: RCV002006503
• dbSNP Id: rs2130712707

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515810_144515811delinsAG , CM000670.2:g.144515810_144515811delinsAG	GRCh38
NC_000008.10:g.145741194_145741195delinsAG , CM000670.1:g.145741194_145741195delinsAG	GRCh37
NC_000008.9:g.145712002_145712003delinsAG	NCBI36
NG_016430.1:g.7016_7017delinsCT
NG_033083.1:g.2846_2847delinsAG
NG_016430.2:g.7016_7017delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.1211_1212delinsCT MANE Select	ENSP00000482313.2:p.Phe404Ser
ENST00000532846.2:c.96_97delinsCT
ENST00000617875.4:c.1211_1212delinsCT	ENSP00000482313.1:p.Phe404Ser
ENST00000621189.4:c.140_141delinsCT	ENSP00000483145.1:p.Phe47Ser
NM_004260.3:c.1211_1212delinsCT	NP_004251.3:p.Phe404Ser
XM_011517380.1:c.1211_1212delinsCT	XP_011515682.1:p.Phe404Ser
XM_011517381.1:c.1115_1116delinsCT	XP_011515683.1:p.Phe372Ser
XM_011517382.1:c.1211_1212delinsCT	XP_011515684.1:p.Phe404Ser
XM_011517383.1:c.1211_1212delinsCT	XP_011515685.1:p.Phe404Ser
XM_011517384.1:c.1211_1212delinsCT	XP_011515686.1:p.Phe404Ser
XM_011517385.1:c.78_79delinsCT	XP_011515687.1:p.Pro27Ser
XR_928366.1:n.1252_1253delinsCT
XR_928367.1:n.1252_1253delinsCT
XR_928368.1:n.1254_1255delinsCT
XM_011517384.3:c.1211_1212delinsCT	XP_011515686.1:p.Phe404Ser
XM_017013991.2:c.1211_1212delinsCT	XP_016869480.1:p.Phe404Ser
XM_017013992.2:c.1211_1212delinsCT	XP_016869481.1:p.Phe404Ser
XM_017013993.2:c.1211_1212delinsCT	XP_016869482.1:p.Phe404Ser
XM_017013994.2:c.1115_1116delinsCT	XP_016869483.1:p.Phe372Ser
XM_017013995.2:c.1211_1212delinsCT	XP_016869484.1:p.Phe404Ser
XM_017013996.2:c.1211_1212delinsCT	XP_016869485.1:p.Phe404Ser
XM_017013997.2:c.1211_1212delinsCT	XP_016869486.1:p.Phe404Ser
XM_017013998.1:c.1211_1212delinsCT	XP_016869487.1:p.Phe404Ser
XM_017013999.2:c.1211_1212delinsCT	XP_016869488.1:p.Phe404Ser
XM_017014000.1:c.78_79delinsCT	XP_016869489.1:p.Pro27Ser
XM_017014001.2:c.78_79delinsCT	XP_016869490.1:p.Pro27Ser
XR_001745626.2:n.1248_1249delinsCT
XR_001745627.2:n.1248_1249delinsCT
XR_001745628.2:n.1248_1249delinsCT
XR_001745629.2:n.1248_1249delinsCT
XR_001745630.2:n.1248_1249delinsCT
NM_004260.4:c.1211_1212delinsCT MANE Select	NP_004251.4:p.Phe404Ser