Canonical Allele Identifier: CA1826368163

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515232_144515233delinsAG , CM000670.2:g.144515232_144515233delinsAG	GRCh38
NC_000008.10:g.145740616_145740617delinsAG , CM000670.1:g.145740616_145740617delinsAG	GRCh37
NC_000008.9:g.145711424_145711425delinsAG	NCBI36
NG_016430.1:g.7594_7595delinsCT
NG_033083.1:g.2268_2269delinsAG
NG_016430.2:g.7594_7595delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688394.1:n.423_424delinsCT
ENST00000617875.6:c.1400_1401delinsCT MANE Select	ENSP00000482313.2:p.Ala467=
ENST00000532846.2:c.285_286delinsCT
ENST00000617875.4:c.1400_1401delinsCT	ENSP00000482313.1:p.Ala467=
ENST00000621189.4:c.329_330delinsCT	ENSP00000483145.1:p.Ala110=
NM_004260.3:c.1400_1401delinsCT	NP_004251.3:p.Ala467=
XM_011517380.1:c.1400_1401delinsCT	XP_011515682.1:p.Ala467=
XM_011517381.1:c.1304_1305delinsCT	XP_011515683.1:p.Ala435=
XM_011517382.1:c.1400_1401delinsCT	XP_011515684.1:p.Ala467=
XM_011517383.1:c.1400_1401delinsCT	XP_011515685.1:p.Ala467=
XM_011517384.1:c.1400_1401delinsCT	XP_011515686.1:p.Ala467=
XM_011517385.1:c.263_264delinsCT	XP_011515687.1:p.Ala88=
XR_928366.1:n.1441_1442delinsCT
XR_928367.1:n.1441_1442delinsCT
XR_928368.1:n.1443_1444delinsCT
XM_011517384.3:c.1400_1401delinsCT	XP_011515686.1:p.Ala467=
XM_017013991.2:c.1400_1401delinsCT	XP_016869480.1:p.Ala467=
XM_017013992.2:c.1400_1401delinsCT	XP_016869481.1:p.Ala467=
XM_017013993.2:c.1400_1401delinsCT	XP_016869482.1:p.Ala467=
XM_017013994.2:c.1304_1305delinsCT	XP_016869483.1:p.Ala435=
XM_017013995.2:c.1400_1401delinsCT	XP_016869484.1:p.Ala467=
XM_017013996.2:c.1400_1401delinsCT	XP_016869485.1:p.Ala467=
XM_017013997.2:c.1400_1401delinsCT	XP_016869486.1:p.Ala467=
XM_017013998.1:c.1400_1401delinsCT	XP_016869487.1:p.Ala467=
XM_017013999.2:c.1400_1401delinsCT	XP_016869488.1:p.Ala467=
XM_017014000.1:c.263_264delinsCT	XP_016869489.1:p.Ala88=
XM_017014001.2:c.263_264delinsCT	XP_016869490.1:p.Ala88=
XR_001745626.2:n.1437_1438delinsCT
XR_001745627.2:n.1437_1438delinsCT
XR_001745628.2:n.1437_1438delinsCT
XR_001745629.2:n.1437_1438delinsCT
XR_001745630.2:n.1437_1438delinsCT
NM_004260.4:c.1400_1401delinsCT MANE Select	NP_004251.4:p.Ala467=