Canonical Allele Identifier: CA2579283177

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 2772875
• ClinVar RCV Id: RCV003507977

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144516458_144516459del , CM000670.2:g.144516458_144516459del	GRCh38
NC_000008.10:g.145741842_145741843del , CM000670.1:g.145741842_145741843del	GRCh37
NC_000008.9:g.145712650_145712651del	NCBI36
NG_016430.1:g.6368_6369del
NG_033083.1:g.3494_3495del
NG_016430.2:g.6368_6369del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.660_661del MANE Select	ENSP00000482313.2:p.Ile221ProfsTer3
ENST00000524998.1:c.228-46_228-45del
ENST00000534538.1:c.511_512del
ENST00000617875.4:c.660_661del	ENSP00000482313.1:p.Ile221ProfsTer3
ENST00000621189.4:c.-412_-411del	ENSP00000483145.1:n.-412_-411del
NM_004260.3:c.660_661del	NP_004251.3:p.Ile221ProfsTer3
XM_011517380.1:c.660_661del	XP_011515682.1:p.Ile221ProfsTer3
XM_011517381.1:c.660_661del	XP_011515683.1:p.Ile221ProfsTer3
XM_011517382.1:c.660_661del	XP_011515684.1:p.Ile221ProfsTer3
XM_011517383.1:c.660_661del	XP_011515685.1:p.Ile221ProfsTer3
XM_011517384.1:c.660_661del	XP_011515686.1:p.Ile221ProfsTer3
XR_928366.1:n.701_702del
XR_928367.1:n.701_702del
XR_928368.1:n.703_704del
XM_011517384.3:c.660_661del	XP_011515686.1:p.Ile221ProfsTer3
XM_017013991.2:c.660_661del	XP_016869480.1:p.Ile221ProfsTer3
XM_017013992.2:c.660_661del	XP_016869481.1:p.Ile221ProfsTer3
XM_017013993.2:c.660_661del	XP_016869482.1:p.Ile221ProfsTer3
XM_017013994.2:c.660_661del	XP_016869483.1:p.Ile221ProfsTer3
XM_017013995.2:c.660_661del	XP_016869484.1:p.Ile221ProfsTer3
XM_017013996.2:c.660_661del	XP_016869485.1:p.Ile221ProfsTer3
XM_017013997.2:c.660_661del	XP_016869486.1:p.Ile221ProfsTer3
XM_017013998.1:c.660_661del	XP_016869487.1:p.Ile221ProfsTer3
XM_017013999.2:c.660_661del	XP_016869488.1:p.Ile221ProfsTer3
XM_017014001.2:c.-474_-473del	XP_016869490.1:n.-474_-473del
XR_001745626.2:n.697_698del
XR_001745627.2:n.697_698del
XR_001745628.2:n.697_698del
XR_001745629.2:n.697_698del
XR_001745630.2:n.697_698del
NM_004260.4:c.660_661del MANE Select	NP_004251.4:p.Ile221ProfsTer3