Canonical Allele Identifier: CA1826370021

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144517608_144517611delinsTCTC , CM000670.2:g.144517608_144517611delinsTCTC	GRCh38
NC_000008.10:g.145742992_145742995delinsTCTC , CM000670.1:g.145742992_145742995delinsTCTC	GRCh37
NC_000008.9:g.145713800_145713803delinsTCTC	NCBI36
NG_016430.1:g.5216_5219delinsGAGA
NG_033083.1:g.4644_4647delinsTCTC
NG_016430.2:g.5216_5219delinsGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.109_112delinsGAGA MANE Select	ENSP00000482313.2:p.Glu37=
ENST00000534538.1:c.18_21delinsGAGA
ENST00000617875.4:c.109_112delinsGAGA	ENSP00000482313.1:p.Glu37=
ENST00000621189.4:c.-963_-960delinsGAGA	ENSP00000483145.1:n.-963_-960delinsGAGA
NM_004260.3:c.109_112delinsGAGA	NP_004251.3:p.Glu37=
XM_011517380.1:c.109_112delinsGAGA	XP_011515682.1:p.Glu37=
XM_011517381.1:c.109_112delinsGAGA	XP_011515683.1:p.Glu37=
XM_011517382.1:c.109_112delinsGAGA	XP_011515684.1:p.Glu37=
XM_011517383.1:c.109_112delinsGAGA	XP_011515685.1:p.Glu37=
XM_011517384.1:c.109_112delinsGAGA	XP_011515686.1:p.Glu37=
XR_928366.1:n.150_153delinsGAGA
XR_928367.1:n.150_153delinsGAGA
XR_928368.1:n.152_155delinsGAGA
XM_011517384.3:c.109_112delinsGAGA	XP_011515686.1:p.Glu37=
XM_017013991.2:c.109_112delinsGAGA	XP_016869480.1:p.Glu37=
XM_017013992.2:c.109_112delinsGAGA	XP_016869481.1:p.Glu37=
XM_017013993.2:c.109_112delinsGAGA	XP_016869482.1:p.Glu37=
XM_017013994.2:c.109_112delinsGAGA	XP_016869483.1:p.Glu37=
XM_017013995.2:c.109_112delinsGAGA	XP_016869484.1:p.Glu37=
XM_017013996.2:c.109_112delinsGAGA	XP_016869485.1:p.Glu37=
XM_017013997.2:c.109_112delinsGAGA	XP_016869486.1:p.Glu37=
XM_017013998.1:c.109_112delinsGAGA	XP_016869487.1:p.Glu37=
XM_017013999.2:c.109_112delinsGAGA	XP_016869488.1:p.Glu37=
XR_001745626.2:n.146_149delinsGAGA
XR_001745627.2:n.146_149delinsGAGA
XR_001745628.2:n.146_149delinsGAGA
XR_001745629.2:n.146_149delinsGAGA
XR_001745630.2:n.146_149delinsGAGA
NM_004260.4:c.109_112delinsGAGA MANE Select	NP_004251.4:p.Glu37=