Canonical Allele Identifier: CA2573142930

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 1456965
• ClinVar RCV Id: RCV001953527
• dbSNP Id: rs2130712718

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515813del , CM000670.2:g.144515813del	GRCh38
NC_000008.10:g.145741197del , CM000670.1:g.145741197del	GRCh37
NC_000008.9:g.145712005del	NCBI36
NG_016430.1:g.7016del
NG_033083.1:g.2849del
NG_016430.2:g.7016del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.1211del MANE Select	ENSP00000482313.2:p.Phe404SerfsTer2
ENST00000532846.2:c.96del
ENST00000617875.4:c.1211del	ENSP00000482313.1:p.Phe404SerfsTer2
ENST00000621189.4:c.140del	ENSP00000483145.1:p.Phe47SerfsTer2
NM_004260.3:c.1211del	NP_004251.3:p.Phe404SerfsTer2
XM_011517380.1:c.1211del	XP_011515682.1:p.Phe404SerfsTer2
XM_011517381.1:c.1115del	XP_011515683.1:p.Phe372SerfsTer2
XM_011517382.1:c.1211del	XP_011515684.1:p.Phe404SerfsTer2
XM_011517383.1:c.1211del	XP_011515685.1:p.Phe404SerfsTer2
XM_011517384.1:c.1211del	XP_011515686.1:p.Phe404SerfsTer2
XM_011517385.1:c.78del	XP_011515687.1:p.Pro27LeufsTer?
XR_928366.1:n.1252del
XR_928367.1:n.1252del
XR_928368.1:n.1254del
XM_011517384.3:c.1211del	XP_011515686.1:p.Phe404SerfsTer2
XM_017013991.2:c.1211del	XP_016869480.1:p.Phe404SerfsTer2
XM_017013992.2:c.1211del	XP_016869481.1:p.Phe404SerfsTer2
XM_017013993.2:c.1211del	XP_016869482.1:p.Phe404SerfsTer2
XM_017013994.2:c.1115del	XP_016869483.1:p.Phe372SerfsTer2
XM_017013995.2:c.1211del	XP_016869484.1:p.Phe404SerfsTer2
XM_017013996.2:c.1211del	XP_016869485.1:p.Phe404SerfsTer2
XM_017013997.2:c.1211del	XP_016869486.1:p.Phe404SerfsTer2
XM_017013998.1:c.1211del	XP_016869487.1:p.Phe404SerfsTer2
XM_017013999.2:c.1211del	XP_016869488.1:p.Phe404SerfsTer2
XM_017014000.1:c.78del	XP_016869489.1:p.Pro27LeufsTer?
XM_017014001.2:c.78del	XP_016869490.1:p.Pro27LeufsTer?
XR_001745626.2:n.1248del
XR_001745627.2:n.1248del
XR_001745628.2:n.1248del
XR_001745629.2:n.1248del
XR_001745630.2:n.1248del
NM_004260.4:c.1211del MANE Select	NP_004251.4:p.Phe404SerfsTer2