Canonical Allele Identifier: CA916083032

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 847782
• ClinVar RCV Id: RCV001051398
• dbSNP Id: rs1815344712

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144517436_144517445del , CM000670.2:g.144517436_144517445del	GRCh38
NC_000008.10:g.145742820_145742829del , CM000670.1:g.145742820_145742829del	GRCh37
NC_000008.9:g.145713628_145713637del	NCBI36
NG_016430.1:g.5387_5396del
NG_033083.1:g.4472_4481del
NG_016430.2:g.5387_5396del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.187_196del MANE Select	ENSP00000482313.2:p.Glu63ProfsTer17
ENST00000524998.1:c.60_69del
ENST00000534270.1:n.133_142del
ENST00000534538.1:c.141_150del
ENST00000617875.4:c.187_196del	ENSP00000482313.1:p.Glu63ProfsTer17
ENST00000621189.4:c.-885_-876del	ENSP00000483145.1:n.-885_-876del
NM_004260.3:c.187_196del	NP_004251.3:p.Glu63ProfsTer17
XM_011517380.1:c.187_196del	XP_011515682.1:p.Glu63ProfsTer17
XM_011517381.1:c.187_196del	XP_011515683.1:p.Glu63ProfsTer17
XM_011517382.1:c.187_196del	XP_011515684.1:p.Glu63ProfsTer17
XM_011517383.1:c.187_196del	XP_011515685.1:p.Glu63ProfsTer17
XM_011517384.1:c.187_196del	XP_011515686.1:p.Glu63ProfsTer17
XR_928366.1:n.228_237del
XR_928367.1:n.228_237del
XR_928368.1:n.230_239del
XM_011517384.3:c.187_196del	XP_011515686.1:p.Glu63ProfsTer17
XM_017013991.2:c.187_196del	XP_016869480.1:p.Glu63ProfsTer17
XM_017013992.2:c.187_196del	XP_016869481.1:p.Glu63ProfsTer17
XM_017013993.2:c.187_196del	XP_016869482.1:p.Glu63ProfsTer17
XM_017013994.2:c.187_196del	XP_016869483.1:p.Glu63ProfsTer17
XM_017013995.2:c.187_196del	XP_016869484.1:p.Glu63ProfsTer17
XM_017013996.2:c.187_196del	XP_016869485.1:p.Glu63ProfsTer17
XM_017013997.2:c.187_196del	XP_016869486.1:p.Glu63ProfsTer17
XM_017013998.1:c.187_196del	XP_016869487.1:p.Glu63ProfsTer17
XM_017013999.2:c.187_196del	XP_016869488.1:p.Glu63ProfsTer17
XM_017014001.2:c.-947_-938del	XP_016869490.1:n.-947_-938del
XR_001745626.2:n.224_233del
XR_001745627.2:n.224_233del
XR_001745628.2:n.224_233del
XR_001745629.2:n.224_233del
XR_001745630.2:n.224_233del
NM_004260.4:c.187_196del MANE Select	NP_004251.4:p.Glu63ProfsTer17