Canonical Allele Identifier: CA2689128945

Gene: RECQL4

Linked Data

• gnomAD v4: 8-144511884-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511885del , CM000670.2:g.144511885del	GRCh38
NC_000008.10:g.145737268del , CM000670.1:g.145737268del	GRCh37
NC_000008.9:g.145708076del	NCBI36
NG_016430.1:g.10942del
NG_016430.2:g.10942del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3393+26del MANE Select	ENSP00000482313.2:n.3393+26del
ENST00000301323.7:c.410+26del
ENST00000529424.2:n.50-96del
ENST00000531875.2:c.648+17del	ENSP00000477910.1:n.648+17del
ENST00000617875.4:c.3393+26del	ENSP00000482313.1:n.3393+26del
ENST00000621189.4:c.2322+26del	ENSP00000483145.1:n.2322+26del
NM_004260.3:c.3393+26del	NP_004251.3:n.3393+26del
XM_011517380.1:c.3468+26del	XP_011515682.1:n.3468+26del
XM_011517381.1:c.3372+26del	XP_011515683.1:n.3372+26del
XM_011517382.1:c.3276+26del	XP_011515684.1:n.3276+26del
XM_011517383.1:c.3270+26del	XP_011515685.1:n.3270+26del
XM_011517384.1:c.3195+26del	XP_011515686.1:n.3195+26del
XM_011517385.1:c.2331+26del	XP_011515687.1:n.2331+26del
XR_928366.1:n.3353-96del
XR_928367.1:n.3448+26del
XR_928368.1:n.3341+26del
XM_011517384.3:c.3195+26del	XP_011515686.1:n.3195+26del
XM_017013991.2:c.3584del	XP_016869480.1:p.Ser1195TyrfsTer?
XM_017013992.2:c.3509del	XP_016869481.1:p.Ser1170TyrfsTer?
XM_017013993.2:c.3494del	XP_016869482.1:p.Ser1165TyrfsTer?
XM_017013994.2:c.3488del	XP_016869483.1:p.Ser1163TyrfsTer?
XM_017013995.2:c.3419del	XP_016869484.1:p.Ser1140TyrfsTer?
XM_017013996.2:c.3558+26del	XP_016869485.1:n.3558+26del
XM_017013997.2:c.3386del	XP_016869486.1:p.Ser1129TyrfsTer?
XM_017013998.1:c.3483+26del	XP_016869487.1:n.3483+26del
XM_017013999.2:c.3296del	XP_016869488.1:p.Ser1099TyrfsTer?
XM_017014000.1:c.2447del	XP_016869489.1:p.Ser816TyrfsTer?
XM_017014001.2:c.2357del	XP_016869490.1:p.Ser786TyrfsTer?
XR_001745626.2:n.3439-96del
XR_001745627.2:n.3534+26del
XR_001745628.2:n.3425+26del
XR_001745629.2:n.3288+26del
XR_001745630.2:n.3090+26del
NM_004260.4:c.3393+26del MANE Select	NP_004251.4:n.3393+26del