Canonical Allele Identifier: CA585833111

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 580219
• ClinVar RCV Id: RCV000703693
• dbSNP Id: rs1239043035
• gnomAD v2: 8-145742992-TCTC-T
• gnomAD v4: 8-144517608-TCTC-T
• MyVariant Identifiers: chr8:g.145742993_145742995del (hg19) ; chr8:g.144517609_144517611del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144517613_144517615del , CM000670.2:g.144517613_144517615del	GRCh38
NC_000008.10:g.145742997_145742999del , CM000670.1:g.145742997_145742999del	GRCh37
NC_000008.9:g.145713805_145713807del	NCBI36
NG_016430.1:g.5216_5218del
NG_033083.1:g.4649_4651del
NG_016430.2:g.5216_5218del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.109_111del MANE Select	ENSP00000482313.2:p.Glu37del
ENST00000534538.1:c.18_20del
ENST00000617875.4:c.109_111del	ENSP00000482313.1:p.Glu37del
ENST00000621189.4:c.-963_-961del	ENSP00000483145.1:n.-963_-961del
NM_004260.3:c.109_111del	NP_004251.3:p.Glu37del
XM_011517380.1:c.109_111del	XP_011515682.1:p.Glu37del
XM_011517381.1:c.109_111del	XP_011515683.1:p.Glu37del
XM_011517382.1:c.109_111del	XP_011515684.1:p.Glu37del
XM_011517383.1:c.109_111del	XP_011515685.1:p.Glu37del
XM_011517384.1:c.109_111del	XP_011515686.1:p.Glu37del
XR_928366.1:n.150_152del
XR_928367.1:n.150_152del
XR_928368.1:n.152_154del
XM_011517384.3:c.109_111del	XP_011515686.1:p.Glu37del
XM_017013991.2:c.109_111del	XP_016869480.1:p.Glu37del
XM_017013992.2:c.109_111del	XP_016869481.1:p.Glu37del
XM_017013993.2:c.109_111del	XP_016869482.1:p.Glu37del
XM_017013994.2:c.109_111del	XP_016869483.1:p.Glu37del
XM_017013995.2:c.109_111del	XP_016869484.1:p.Glu37del
XM_017013996.2:c.109_111del	XP_016869485.1:p.Glu37del
XM_017013997.2:c.109_111del	XP_016869486.1:p.Glu37del
XM_017013998.1:c.109_111del	XP_016869487.1:p.Glu37del
XM_017013999.2:c.109_111del	XP_016869488.1:p.Glu37del
XR_001745626.2:n.146_148del
XR_001745627.2:n.146_148del
XR_001745628.2:n.146_148del
XR_001745629.2:n.146_148del
XR_001745630.2:n.146_148del
NM_004260.4:c.109_111del MANE Select	NP_004251.4:p.Glu37del