Canonical Allele Identifier: CA2580078806

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 2061655
• ClinVar RCV Id: RCV002942892

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144517439_144517440delinsAA , CM000670.2:g.144517439_144517440delinsAA	GRCh38
NC_000008.10:g.145742823_145742824delinsAA , CM000670.1:g.145742823_145742824delinsAA	GRCh37
NC_000008.9:g.145713631_145713632delinsAA	NCBI36
NG_016430.1:g.5387_5388delinsTT
NG_033083.1:g.4475_4476delinsAA
NG_016430.2:g.5387_5388delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.187_188delinsTT MANE Select	ENSP00000482313.2:p.Glu63Leu
ENST00000524998.1:c.60_61delinsTT
ENST00000534270.1:n.133_134delinsTT
ENST00000534538.1:c.141_142delinsTT
ENST00000617875.4:c.187_188delinsTT	ENSP00000482313.1:p.Glu63Leu
ENST00000621189.4:c.-885_-884delinsTT	ENSP00000483145.1:n.-885_-884delinsTT
NM_004260.3:c.187_188delinsTT	NP_004251.3:p.Glu63Leu
XM_011517380.1:c.187_188delinsTT	XP_011515682.1:p.Glu63Leu
XM_011517381.1:c.187_188delinsTT	XP_011515683.1:p.Glu63Leu
XM_011517382.1:c.187_188delinsTT	XP_011515684.1:p.Glu63Leu
XM_011517383.1:c.187_188delinsTT	XP_011515685.1:p.Glu63Leu
XM_011517384.1:c.187_188delinsTT	XP_011515686.1:p.Glu63Leu
XR_928366.1:n.228_229delinsTT
XR_928367.1:n.228_229delinsTT
XR_928368.1:n.230_231delinsTT
XM_011517384.3:c.187_188delinsTT	XP_011515686.1:p.Glu63Leu
XM_017013991.2:c.187_188delinsTT	XP_016869480.1:p.Glu63Leu
XM_017013992.2:c.187_188delinsTT	XP_016869481.1:p.Glu63Leu
XM_017013993.2:c.187_188delinsTT	XP_016869482.1:p.Glu63Leu
XM_017013994.2:c.187_188delinsTT	XP_016869483.1:p.Glu63Leu
XM_017013995.2:c.187_188delinsTT	XP_016869484.1:p.Glu63Leu
XM_017013996.2:c.187_188delinsTT	XP_016869485.1:p.Glu63Leu
XM_017013997.2:c.187_188delinsTT	XP_016869486.1:p.Glu63Leu
XM_017013998.1:c.187_188delinsTT	XP_016869487.1:p.Glu63Leu
XM_017013999.2:c.187_188delinsTT	XP_016869488.1:p.Glu63Leu
XM_017014001.2:c.-947_-946delinsTT	XP_016869490.1:n.-947_-946delinsTT
XR_001745626.2:n.224_225delinsTT
XR_001745627.2:n.224_225delinsTT
XR_001745628.2:n.224_225delinsTT
XR_001745629.2:n.224_225delinsTT
XR_001745630.2:n.224_225delinsTT
NM_004260.4:c.187_188delinsTT MANE Select	NP_004251.4:p.Glu63Leu