Canonical Allele Identifier: CA2832528751

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515009dup , CM000670.2:g.144515009dup	GRCh38
NC_000008.10:g.145740393dup , CM000670.1:g.145740393dup	GRCh37
NC_000008.9:g.145711201dup	NCBI36
NG_016430.1:g.7818dup
NG_033083.1:g.2045dup
NG_016430.2:g.7818dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688394.1:n.570dup
ENST00000617875.6:c.1547dup MANE Select	ENSP00000482313.2:p.Leu517AlafsTer23
ENST00000532846.2:c.402dup
ENST00000617875.4:c.1547dup	ENSP00000482313.1:p.Leu517AlafsTer23
ENST00000621189.4:c.476dup	ENSP00000483145.1:p.Leu160AlafsTer23
NM_004260.3:c.1547dup	NP_004251.3:p.Leu517AlafsTer23
XM_011517380.1:c.1547dup	XP_011515682.1:p.Leu517AlafsTer23
XM_011517381.1:c.1451dup	XP_011515683.1:p.Leu485AlafsTer23
XM_011517382.1:c.1547dup	XP_011515684.1:p.Leu517AlafsTer23
XM_011517383.1:c.1547dup	XP_011515685.1:p.Leu517AlafsTer23
XM_011517384.1:c.1547dup	XP_011515686.1:p.Leu517AlafsTer23
XM_011517385.1:c.410dup	XP_011515687.1:p.Leu138AlafsTer23
XR_928366.1:n.1588dup
XR_928367.1:n.1588dup
XR_928368.1:n.1590dup
XM_011517384.3:c.1547dup	XP_011515686.1:p.Leu517AlafsTer23
XM_017013991.2:c.1547dup	XP_016869480.1:p.Leu517AlafsTer23
XM_017013992.2:c.1547dup	XP_016869481.1:p.Leu517AlafsTer23
XM_017013993.2:c.1547dup	XP_016869482.1:p.Leu517AlafsTer23
XM_017013994.2:c.1451dup	XP_016869483.1:p.Leu485AlafsTer23
XM_017013995.2:c.1547dup	XP_016869484.1:p.Leu517AlafsTer23
XM_017013996.2:c.1547dup	XP_016869485.1:p.Leu517AlafsTer23
XM_017013997.2:c.1547dup	XP_016869486.1:p.Leu517AlafsTer23
XM_017013998.1:c.1547dup	XP_016869487.1:p.Leu517AlafsTer23
XM_017013999.2:c.1547dup	XP_016869488.1:p.Leu517AlafsTer23
XM_017014000.1:c.410dup	XP_016869489.1:p.Leu138AlafsTer23
XM_017014001.2:c.410dup	XP_016869490.1:p.Leu138AlafsTer23
XR_001745626.2:n.1584dup
XR_001745627.2:n.1584dup
XR_001745628.2:n.1584dup
XR_001745629.2:n.1584dup
XR_001745630.2:n.1584dup
NM_004260.4:c.1547dup MANE Select	NP_004251.4:p.Leu517AlafsTer23