Canonical Allele Identifier: CA2689129906

Gene: RECQL4

Linked Data

• dbSNP Id: rs2130744601
• gnomAD v4: 8-144517673-AGCCCCTCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144517680_144517687del , CM000670.2:g.144517680_144517687del	GRCh38
NC_000008.10:g.145743064_145743071del , CM000670.1:g.145743064_145743071del	GRCh37
NC_000008.9:g.145713872_145713879del	NCBI36
NG_016430.1:g.5146_5153del
NG_033083.1:g.4716_4723del
NG_016430.2:g.5146_5153del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.84+20_84+27del MANE Select	ENSP00000482313.2:n.84+20_84+27del
ENST00000617875.4:c.84+20_84+27del	ENSP00000482313.1:n.84+20_84+27del
ENST00000621189.4:c.-1033_-1026del	ENSP00000483145.1:n.-1033_-1026del
NM_004260.3:c.84+20_84+27del	NP_004251.3:n.84+20_84+27del
XM_011517380.1:c.84+20_84+27del	XP_011515682.1:n.84+20_84+27del
XM_011517381.1:c.84+20_84+27del	XP_011515683.1:n.84+20_84+27del
XM_011517382.1:c.84+20_84+27del	XP_011515684.1:n.84+20_84+27del
XM_011517383.1:c.84+20_84+27del	XP_011515685.1:n.84+20_84+27del
XM_011517384.1:c.84+20_84+27del	XP_011515686.1:n.84+20_84+27del
XR_928366.1:n.125+20_125+27del
XR_928367.1:n.125+20_125+27del
XR_928368.1:n.127+20_127+27del
XM_011517384.3:c.84+20_84+27del	XP_011515686.1:n.84+20_84+27del
XM_017013991.2:c.84+20_84+27del	XP_016869480.1:n.84+20_84+27del
XM_017013992.2:c.84+20_84+27del	XP_016869481.1:n.84+20_84+27del
XM_017013993.2:c.84+20_84+27del	XP_016869482.1:n.84+20_84+27del
XM_017013994.2:c.84+20_84+27del	XP_016869483.1:n.84+20_84+27del
XM_017013995.2:c.84+20_84+27del	XP_016869484.1:n.84+20_84+27del
XM_017013996.2:c.84+20_84+27del	XP_016869485.1:n.84+20_84+27del
XM_017013997.2:c.84+20_84+27del	XP_016869486.1:n.84+20_84+27del
XM_017013998.1:c.84+20_84+27del	XP_016869487.1:n.84+20_84+27del
XM_017013999.2:c.84+20_84+27del	XP_016869488.1:n.84+20_84+27del
XR_001745626.2:n.121+20_121+27del
XR_001745627.2:n.121+20_121+27del
XR_001745628.2:n.121+20_121+27del
XR_001745629.2:n.121+20_121+27del
XR_001745630.2:n.121+20_121+27del
NM_004260.4:c.84+20_84+27del MANE Select	NP_004251.4:n.84+20_84+27del