Canonical Allele Identifier: CA2579283310

Gene: RECQL4

Linked Data

• gnomAD v4: 8-144517616-GGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144517619_144517620del , CM000670.2:g.144517619_144517620del	GRCh38
NC_000008.10:g.145743003_145743004del , CM000670.1:g.145743003_145743004del	GRCh37
NC_000008.9:g.145713811_145713812del	NCBI36
NG_016430.1:g.5209_5210del
NG_033083.1:g.4655_4656del
NG_016430.2:g.5209_5210del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.102_103del MANE Select	ENSP00000482313.2:p.Pro35GlyfsTer?
ENST00000534538.1:c.11_12del
ENST00000617875.4:c.102_103del	ENSP00000482313.1:p.Pro35GlyfsTer?
ENST00000621189.4:c.-970_-969del	ENSP00000483145.1:n.-970_-969del
NM_004260.3:c.102_103del	NP_004251.3:p.Pro35GlyfsTer?
XM_011517380.1:c.102_103del	XP_011515682.1:p.Pro35GlyfsTer?
XM_011517381.1:c.102_103del	XP_011515683.1:p.Pro35GlyfsTer?
XM_011517382.1:c.102_103del	XP_011515684.1:p.Pro35GlyfsTer?
XM_011517383.1:c.102_103del	XP_011515685.1:p.Pro35GlyfsTer?
XM_011517384.1:c.102_103del	XP_011515686.1:p.Pro35GlyfsTer?
XR_928366.1:n.143_144del
XR_928367.1:n.143_144del
XR_928368.1:n.145_146del
XM_011517384.3:c.102_103del	XP_011515686.1:p.Pro35GlyfsTer?
XM_017013991.2:c.102_103del	XP_016869480.1:p.Pro35GlyfsTer?
XM_017013992.2:c.102_103del	XP_016869481.1:p.Pro35GlyfsTer?
XM_017013993.2:c.102_103del	XP_016869482.1:p.Pro35GlyfsTer?
XM_017013994.2:c.102_103del	XP_016869483.1:p.Pro35GlyfsTer?
XM_017013995.2:c.102_103del	XP_016869484.1:p.Pro35GlyfsTer?
XM_017013996.2:c.102_103del	XP_016869485.1:p.Pro35GlyfsTer?
XM_017013997.2:c.102_103del	XP_016869486.1:p.Pro35GlyfsTer?
XM_017013998.1:c.102_103del	XP_016869487.1:p.Pro35GlyfsTer?
XM_017013999.2:c.102_103del	XP_016869488.1:p.Pro35GlyfsTer?
XR_001745626.2:n.139_140del
XR_001745627.2:n.139_140del
XR_001745628.2:n.139_140del
XR_001745629.2:n.139_140del
XR_001745630.2:n.139_140del
NM_004260.4:c.102_103del MANE Select	NP_004251.4:p.Pro35GlyfsTer?