Canonical Allele Identifier: CA1826367979

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144514982_144514988delinsCAGGGGC , CM000670.2:g.144514982_144514988delinsCAGGGGC	GRCh38
NC_000008.10:g.145740366_145740372delinsCAGGGGC , CM000670.1:g.145740366_145740372delinsCAGGGGC	GRCh37
NC_000008.9:g.145711174_145711180delinsCAGGGGC	NCBI36
NG_016430.1:g.7839_7845delinsGCCCCTG
NG_033083.1:g.2018_2024delinsCAGGGGC
NG_016430.2:g.7839_7845delinsGCCCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688394.1:n.591_597delinsGCCCCTG
ENST00000617875.6:c.1568_1574delinsGCCCCTG MANE Select	ENSP00000482313.2:p.Ser523=
ENST00000532846.2:c.423_429delinsGCCCCTG
ENST00000617875.4:c.1568_1574delinsGCCCCTG	ENSP00000482313.1:p.Ser523=
ENST00000621189.4:c.497_503delinsGCCCCTG	ENSP00000483145.1:p.Ser166=
NM_004260.3:c.1568_1574delinsGCCCCTG	NP_004251.3:p.Ser523=
XM_011517380.1:c.1568_1574delinsGCCCCTG	XP_011515682.1:p.Ser523=
XM_011517381.1:c.1472_1478delinsGCCCCTG	XP_011515683.1:p.Ser491=
XM_011517382.1:c.1568_1574delinsGCCCCTG	XP_011515684.1:p.Ser523=
XM_011517383.1:c.1568_1574delinsGCCCCTG	XP_011515685.1:p.Ser523=
XM_011517384.1:c.1568_1574delinsGCCCCTG	XP_011515686.1:p.Ser523=
XM_011517385.1:c.431_437delinsGCCCCTG	XP_011515687.1:p.Ser144=
XR_928366.1:n.1609_1615delinsGCCCCTG
XR_928367.1:n.1609_1615delinsGCCCCTG
XR_928368.1:n.1611_1617delinsGCCCCTG
XM_011517384.3:c.1568_1574delinsGCCCCTG	XP_011515686.1:p.Ser523=
XM_017013991.2:c.1568_1574delinsGCCCCTG	XP_016869480.1:p.Ser523=
XM_017013992.2:c.1568_1574delinsGCCCCTG	XP_016869481.1:p.Ser523=
XM_017013993.2:c.1568_1574delinsGCCCCTG	XP_016869482.1:p.Ser523=
XM_017013994.2:c.1472_1478delinsGCCCCTG	XP_016869483.1:p.Ser491=
XM_017013995.2:c.1568_1574delinsGCCCCTG	XP_016869484.1:p.Ser523=
XM_017013996.2:c.1568_1574delinsGCCCCTG	XP_016869485.1:p.Ser523=
XM_017013997.2:c.1568_1574delinsGCCCCTG	XP_016869486.1:p.Ser523=
XM_017013998.1:c.1568_1574delinsGCCCCTG	XP_016869487.1:p.Ser523=
XM_017013999.2:c.1568_1574delinsGCCCCTG	XP_016869488.1:p.Ser523=
XM_017014000.1:c.431_437delinsGCCCCTG	XP_016869489.1:p.Ser144=
XM_017014001.2:c.431_437delinsGCCCCTG	XP_016869490.1:p.Ser144=
XR_001745626.2:n.1605_1611delinsGCCCCTG
XR_001745627.2:n.1605_1611delinsGCCCCTG
XR_001745628.2:n.1605_1611delinsGCCCCTG
XR_001745629.2:n.1605_1611delinsGCCCCTG
XR_001745630.2:n.1605_1611delinsGCCCCTG
NM_004260.4:c.1568_1574delinsGCCCCTG MANE Select	NP_004251.4:p.Ser523=