Canonical Allele Identifier: CA2689128984

Gene: RECQL4

Linked Data

• gnomAD v4: 8-144511897-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511898_144511899del , CM000670.2:g.144511898_144511899del	GRCh38
NC_000008.10:g.145737281_145737282del , CM000670.1:g.145737281_145737282del	GRCh37
NC_000008.9:g.145708089_145708090del	NCBI36
NG_016430.1:g.10928_10929del
NG_016430.2:g.10928_10929del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3393+12_3393+13del MANE Select	ENSP00000482313.2:n.3393+12_3393+13del
ENST00000301323.7:c.410+12_410+13del
ENST00000529424.2:n.50-110_50-109del
ENST00000531875.2:c.648+3_648+4del	ENSP00000477910.1:n.648+3_648+4del
ENST00000617875.4:c.3393+12_3393+13del	ENSP00000482313.1:n.3393+12_3393+13del
ENST00000621189.4:c.2322+12_2322+13del	ENSP00000483145.1:n.2322+12_2322+13del
NM_004260.3:c.3393+12_3393+13del	NP_004251.3:n.3393+12_3393+13del
XM_011517380.1:c.3468+12_3468+13del	XP_011515682.1:n.3468+12_3468+13del
XM_011517381.1:c.3372+12_3372+13del	XP_011515683.1:n.3372+12_3372+13del
XM_011517382.1:c.3276+12_3276+13del	XP_011515684.1:n.3276+12_3276+13del
XM_011517383.1:c.3270+12_3270+13del	XP_011515685.1:n.3270+12_3270+13del
XM_011517384.1:c.3195+12_3195+13del	XP_011515686.1:n.3195+12_3195+13del
XM_011517385.1:c.2331+12_2331+13del	XP_011515687.1:n.2331+12_2331+13del
XR_928366.1:n.3353-110_3353-109del
XR_928367.1:n.3448+12_3448+13del
XR_928368.1:n.3341+12_3341+13del
XM_011517384.3:c.3195+12_3195+13del	XP_011515686.1:n.3195+12_3195+13del
XM_017013991.2:c.3570_3571del	XP_016869480.1:p.Arg1191AlafsTer?
XM_017013992.2:c.3495_3496del	XP_016869481.1:p.Arg1166AlafsTer?
XM_017013993.2:c.3480_3481del	XP_016869482.1:p.Arg1161AlafsTer?
XM_017013994.2:c.3474_3475del	XP_016869483.1:p.Arg1159AlafsTer?
XM_017013995.2:c.3405_3406del	XP_016869484.1:p.Arg1136AlafsTer?
XM_017013996.2:c.3558+12_3558+13del	XP_016869485.1:n.3558+12_3558+13del
XM_017013997.2:c.3372_3373del	XP_016869486.1:p.Arg1125AlafsTer?
XM_017013998.1:c.3483+12_3483+13del	XP_016869487.1:n.3483+12_3483+13del
XM_017013999.2:c.3282_3283del	XP_016869488.1:p.Arg1095AlafsTer?
XM_017014000.1:c.2433_2434del	XP_016869489.1:p.Arg812AlafsTer?
XM_017014001.2:c.2343_2344del	XP_016869490.1:p.Arg782AlafsTer?
XR_001745626.2:n.3439-110_3439-109del
XR_001745627.2:n.3534+12_3534+13del
XR_001745628.2:n.3425+12_3425+13del
XR_001745629.2:n.3288+12_3288+13del
XR_001745630.2:n.3090+12_3090+13del
NM_004260.4:c.3393+12_3393+13del MANE Select	NP_004251.4:n.3393+12_3393+13del