Canonical Allele Identifier: CA2580078760

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 2127523
• ClinVar RCV Id: RCV003055542

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144516660_144516661del , CM000670.2:g.144516660_144516661del	GRCh38
NC_000008.10:g.145742044_145742045del , CM000670.1:g.145742044_145742045del	GRCh37
NC_000008.9:g.145712852_145712853del	NCBI36
NG_016430.1:g.6169_6170del
NG_033083.1:g.3696_3697del
NG_016430.2:g.6169_6170del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.461_462del MANE Select	ENSP00000482313.2:p.Lys154SerfsTer3
ENST00000524998.1:c.228-245_228-244del
ENST00000534538.1:c.312_313del
ENST00000617875.4:c.461_462del	ENSP00000482313.1:p.Lys154SerfsTer3
ENST00000621189.4:c.-611_-610del	ENSP00000483145.1:n.-611_-610del
NM_004260.3:c.461_462del	NP_004251.3:p.Lys154SerfsTer3
XM_011517380.1:c.461_462del	XP_011515682.1:p.Lys154SerfsTer3
XM_011517381.1:c.461_462del	XP_011515683.1:p.Lys154SerfsTer3
XM_011517382.1:c.461_462del	XP_011515684.1:p.Lys154SerfsTer3
XM_011517383.1:c.461_462del	XP_011515685.1:p.Lys154SerfsTer3
XM_011517384.1:c.461_462del	XP_011515686.1:p.Lys154SerfsTer3
XR_928366.1:n.502_503del
XR_928367.1:n.502_503del
XR_928368.1:n.504_505del
XM_011517384.3:c.461_462del	XP_011515686.1:p.Lys154SerfsTer3
XM_017013991.2:c.461_462del	XP_016869480.1:p.Lys154SerfsTer3
XM_017013992.2:c.461_462del	XP_016869481.1:p.Lys154SerfsTer3
XM_017013993.2:c.461_462del	XP_016869482.1:p.Lys154SerfsTer3
XM_017013994.2:c.461_462del	XP_016869483.1:p.Lys154SerfsTer3
XM_017013995.2:c.461_462del	XP_016869484.1:p.Lys154SerfsTer3
XM_017013996.2:c.461_462del	XP_016869485.1:p.Lys154SerfsTer3
XM_017013997.2:c.461_462del	XP_016869486.1:p.Lys154SerfsTer3
XM_017013998.1:c.461_462del	XP_016869487.1:p.Lys154SerfsTer3
XM_017013999.2:c.461_462del	XP_016869488.1:p.Lys154SerfsTer3
XM_017014001.2:c.-673_-672del	XP_016869490.1:n.-673_-672del
XR_001745626.2:n.498_499del
XR_001745627.2:n.498_499del
XR_001745628.2:n.498_499del
XR_001745629.2:n.498_499del
XR_001745630.2:n.498_499del
NM_004260.4:c.461_462del MANE Select	NP_004251.4:p.Lys154SerfsTer3