Canonical Allele Identifier: CA2689129167

Gene: RECQL4

Linked Data

• gnomAD v4: 8-144511979-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511982dup , CM000670.2:g.144511982dup	GRCh38
NC_000008.10:g.145737365dup , CM000670.1:g.145737365dup	GRCh37
NC_000008.9:g.145708173dup	NCBI36
NG_016430.1:g.10847dup
NG_016430.2:g.10847dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3324dup MANE Select	ENSP00000482313.2:p.Glu1109Ter
ENST00000301323.7:c.341dup
ENST00000529424.2:n.50-191dup
ENST00000531875.2:c.570dup	ENSP00000477910.1:p.Glu191Ter
ENST00000617875.4:c.3324dup	ENSP00000482313.1:p.Glu1109Ter
ENST00000621189.4:c.2253dup	ENSP00000483145.1:p.Glu752Ter
NM_004260.3:c.3324dup	NP_004251.3:p.Glu1109Ter
XM_011517380.1:c.3399dup	XP_011515682.1:p.Glu1134Ter
XM_011517381.1:c.3303dup	XP_011515683.1:p.Glu1102Ter
XM_011517382.1:c.3207dup	XP_011515684.1:p.Glu1070Ter
XM_011517383.1:c.3201dup	XP_011515685.1:p.Glu1068Ter
XM_011517384.1:c.3126dup	XP_011515686.1:p.Glu1043Ter
XM_011517385.1:c.2262dup	XP_011515687.1:p.Glu755Ter
XR_928366.1:n.3352+164dup
XR_928367.1:n.3379dup
XR_928368.1:n.3272dup
XM_011517384.3:c.3126dup	XP_011515686.1:p.Glu1043Ter
XM_017013991.2:c.3489dup	XP_016869480.1:p.Glu1164Ter
XM_017013992.2:c.3414dup	XP_016869481.1:p.Glu1139Ter
XM_017013993.2:c.3399dup	XP_016869482.1:p.Glu1134Ter
XM_017013994.2:c.3393dup	XP_016869483.1:p.Glu1132Ter
XM_017013995.2:c.3324dup	XP_016869484.1:p.Glu1109Ter
XM_017013996.2:c.3489dup	XP_016869485.1:p.Glu1164Ter
XM_017013997.2:c.3291dup	XP_016869486.1:p.Glu1098Ter
XM_017013998.1:c.3414dup	XP_016869487.1:p.Glu1139Ter
XM_017013999.2:c.3201dup	XP_016869488.1:p.Glu1068Ter
XM_017014000.1:c.2352dup	XP_016869489.1:p.Glu785Ter
XM_017014001.2:c.2262dup	XP_016869490.1:p.Glu755Ter
XR_001745626.2:n.3438+164dup
XR_001745627.2:n.3465dup
XR_001745628.2:n.3356dup
XR_001745629.2:n.3219dup
XR_001745630.2:n.3021dup
NM_004260.4:c.3324dup MANE Select	NP_004251.4:p.Glu1109Ter