Canonical Allele Identifier: CA2689128819

Gene: RECQL4

Linked Data

• gnomAD v4: 8-144511846-AGCAAGCCCCAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511850_144511860del , CM000670.2:g.144511850_144511860del	GRCh38
NC_000008.10:g.145737233_145737243del , CM000670.1:g.145737233_145737243del	GRCh37
NC_000008.9:g.145708041_145708051del	NCBI36
NG_016430.1:g.10970_10980del
NG_016430.2:g.10970_10980del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3393+54_3394-58del MANE Select	ENSP00000482313.2:n.3393+54_3394-58del
ENST00000301323.7:c.410+54_411-58del
ENST00000529424.2:n.50-68_50-58del
ENST00000531875.2:c.648+45_648+55del	ENSP00000477910.1:n.648+45_648+55del
ENST00000617875.4:c.3393+54_3394-58del	ENSP00000482313.1:n.3393+54_3394-58del
ENST00000621189.4:c.2322+54_2323-58del	ENSP00000483145.1:n.2322+54_2323-58del
NM_004260.3:c.3393+54_3394-58del	NP_004251.3:n.3393+54_3394-58del
XM_011517380.1:c.3468+54_3469-58del	XP_011515682.1:n.3468+54_3469-58del
XM_011517381.1:c.3372+54_3373-58del	XP_011515683.1:n.3372+54_3373-58del
XM_011517382.1:c.3276+54_3277-58del	XP_011515684.1:n.3276+54_3277-58del
XM_011517383.1:c.3270+54_3271-58del	XP_011515685.1:n.3270+54_3271-58del
XM_011517384.1:c.3195+54_3196-58del	XP_011515686.1:n.3195+54_3196-58del
XM_011517385.1:c.2331+54_2332-58del	XP_011515687.1:n.2331+54_2332-58del
XR_928366.1:n.3353-68_3353-58del
XR_928367.1:n.3448+54_3449-58del
XR_928368.1:n.3341+54_3342-58del
XM_011517384.3:c.3195+54_3196-58del	XP_011515686.1:n.3195+54_3196-58del
XM_017013991.2:c.3612_3622del	XP_016869480.1:p.Trp1205LeufsTer13
XM_017013992.2:c.3537_3547del	XP_016869481.1:p.Trp1180LeufsTer13
XM_017013993.2:c.3522_3532del	XP_016869482.1:p.Trp1175LeufsTer13
XM_017013994.2:c.3516_3526del	XP_016869483.1:p.Trp1173LeufsTer13
XM_017013995.2:c.3447_3457del	XP_016869484.1:p.Trp1150LeufsTer13
XM_017013996.2:c.3558+54_3559-58del	XP_016869485.1:n.3558+54_3559-58del
XM_017013997.2:c.3414_3424del	XP_016869486.1:p.Trp1139LeufsTer13
XM_017013998.1:c.3483+54_3484-58del	XP_016869487.1:n.3483+54_3484-58del
XM_017013999.2:c.3324_3334del	XP_016869488.1:p.Trp1109LeufsTer13
XM_017014000.1:c.2475_2485del	XP_016869489.1:p.Trp826LeufsTer13
XM_017014001.2:c.2385_2395del	XP_016869490.1:p.Trp796LeufsTer13
XR_001745626.2:n.3439-68_3439-58del
XR_001745627.2:n.3534+54_3535-58del
XR_001745628.2:n.3425+54_3426-58del
XR_001745629.2:n.3288+54_3289-58del
XR_001745630.2:n.3090+54_3091-58del
NM_004260.4:c.3393+54_3394-58del MANE Select	NP_004251.4:n.3393+54_3394-58del