Canonical Allele Identifier: CA2580078836

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 2057860
• ClinVar RCV Id: RCV002914969

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144516025del , CM000670.2:g.144516025del	GRCh38
NC_000008.10:g.145741409del , CM000670.1:g.145741409del	GRCh37
NC_000008.9:g.145712217del	NCBI36
NG_016430.1:g.6805del
NG_033083.1:g.3061del
NG_016430.2:g.6805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.1097del MANE Select	ENSP00000482313.2:p.Gly366AlafsTer?
ENST00000524998.1:c.619del
ENST00000617875.4:c.1097del	ENSP00000482313.1:p.Gly366AlafsTer?
ENST00000621189.4:c.26del	ENSP00000483145.1:p.Gly9AlafsTer?
NM_004260.3:c.1097del	NP_004251.3:p.Gly366AlafsTer?
XM_011517380.1:c.1097del	XP_011515682.1:p.Gly366AlafsTer?
XM_011517381.1:c.1001del	XP_011515683.1:p.Gly334AlafsTer?
XM_011517382.1:c.1097del	XP_011515684.1:p.Gly366AlafsTer?
XM_011517383.1:c.1097del	XP_011515685.1:p.Gly366AlafsTer?
XM_011517384.1:c.1097del	XP_011515686.1:p.Gly366AlafsTer?
XM_011517385.1:c.-37del	XP_011515687.1:n.-37del
XR_928366.1:n.1138del
XR_928367.1:n.1138del
XR_928368.1:n.1140del
XM_011517384.3:c.1097del	XP_011515686.1:p.Gly366AlafsTer?
XM_017013991.2:c.1097del	XP_016869480.1:p.Gly366AlafsTer?
XM_017013992.2:c.1097del	XP_016869481.1:p.Gly366AlafsTer?
XM_017013993.2:c.1097del	XP_016869482.1:p.Gly366AlafsTer?
XM_017013994.2:c.1001del	XP_016869483.1:p.Gly334AlafsTer?
XM_017013995.2:c.1097del	XP_016869484.1:p.Gly366AlafsTer?
XM_017013996.2:c.1097del	XP_016869485.1:p.Gly366AlafsTer?
XM_017013997.2:c.1097del	XP_016869486.1:p.Gly366AlafsTer?
XM_017013998.1:c.1097del	XP_016869487.1:p.Gly366AlafsTer?
XM_017013999.2:c.1097del	XP_016869488.1:p.Gly366AlafsTer?
XM_017014000.1:c.-37del	XP_016869489.1:n.-37del
XM_017014001.2:c.-37del	XP_016869490.1:n.-37del
XR_001745626.2:n.1134del
XR_001745627.2:n.1134del
XR_001745628.2:n.1134del
XR_001745629.2:n.1134del
XR_001745630.2:n.1134del
NM_004260.4:c.1097del MANE Select	NP_004251.4:p.Gly366AlafsTer?