Canonical Allele Identifier: CA144342

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 56410
• ClinVar RCV Id: RCV000049823
• dbSNP Id: rs386833854
• gnomAD v2: 8-145736840-CCG-C
• gnomAD v4: 8-144511457-CCG-C
• MyVariant Identifiers: chr8:g.145736841_145736842del (hg19) ; chr8:g.144511458_144511459del (hg38)
• PubMed: PMID:18716613

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511458_144511459del , CM000670.2:g.144511458_144511459del	GRCh38
NC_000008.10:g.145736841_145736842del , CM000670.1:g.145736841_145736842del	GRCh37
NC_000008.9:g.145707649_145707650del	NCBI36
NG_016430.1:g.11368_11369del
NG_016430.2:g.11368_11369del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3599_3600del MANE Select	ENSP00000482313.2:p.Thr1200ArgfsTer26
ENST00000301323.7:c.616_617del
ENST00000529424.2:n.255_256del
ENST00000531875.2:c.854_855del	ENSP00000477910.1:p.Thr285ArgfsTer26
ENST00000617875.4:c.3599_3600del	ENSP00000482313.1:p.Thr1200ArgfsTer26
ENST00000621189.4:c.2528_2529del	ENSP00000483145.1:p.Thr843ArgfsTer26
NM_004260.3:c.3599_3600del	NP_004251.3:p.Thr1200ArgfsTer26
XM_011517380.1:c.3674_3675del	XP_011515682.1:p.Thr1225ArgfsTer26
XM_011517381.1:c.3578_3579del	XP_011515683.1:p.Thr1193ArgfsTer26
XM_011517382.1:c.3482_3483del	XP_011515684.1:p.Thr1161ArgfsTer26
XM_011517383.1:c.3476_3477del	XP_011515685.1:p.Thr1159ArgfsTer26
XM_011517384.1:c.3401_3402del	XP_011515686.1:p.Thr1134ArgfsTer26
XM_011517385.1:c.2537_2538del	XP_011515687.1:p.Thr846ArgfsTer26
XR_928366.1:n.3558_3559del
XR_928367.1:n.3654_3655del
XR_928368.1:n.3547_3548del
XM_011517384.3:c.3401_3402del	XP_011515686.1:p.Thr1134ArgfsTer26
XM_017013991.2:c.3885_3886del	XP_016869480.1:p.His1295GlnfsTer19
XM_017013992.2:c.3810_3811del	XP_016869481.1:p.His1270GlnfsTer19
XM_017013993.2:c.3795_3796del	XP_016869482.1:p.His1265GlnfsTer19
XM_017013994.2:c.3789_3790del	XP_016869483.1:p.His1263GlnfsTer19
XM_017013995.2:c.3720_3721del	XP_016869484.1:p.His1240GlnfsTer19
XM_017013996.2:c.3764_3765del	XP_016869485.1:p.Thr1255ArgfsTer26
XM_017013997.2:c.3687_3688del	XP_016869486.1:p.His1229GlnfsTer19
XM_017013998.1:c.3689_3690del	XP_016869487.1:p.Thr1230ArgfsTer26
XM_017013999.2:c.3597_3598del	XP_016869488.1:p.His1199GlnfsTer19
XM_017014000.1:c.2748_2749del	XP_016869489.1:p.His916GlnfsTer19
XM_017014001.2:c.2658_2659del	XP_016869490.1:p.His886GlnfsTer19
XR_001745626.2:n.3644_3645del
XR_001745627.2:n.3740_3741del
XR_001745628.2:n.3631_3632del
XR_001745629.2:n.3494_3495del
XR_001745630.2:n.3296_3297del
NM_004260.4:c.3599_3600del MANE Select	NP_004251.4:p.Thr1200ArgfsTer26