Canonical Allele Identifier: CA2579283178

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144516463del , CM000670.2:g.144516463del	GRCh38
NC_000008.10:g.145741847del , CM000670.1:g.145741847del	GRCh37
NC_000008.9:g.145712655del	NCBI36
NG_016430.1:g.6365del
NG_033083.1:g.3499del
NG_016430.2:g.6365del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.657del MANE Select	ENSP00000482313.2:p.Leu220Ter
ENST00000524998.1:c.228-49del
ENST00000534538.1:c.508del
ENST00000617875.4:c.657del	ENSP00000482313.1:p.Leu220Ter
ENST00000621189.4:c.-415del	ENSP00000483145.1:n.-415del
NM_004260.3:c.657del	NP_004251.3:p.Leu220Ter
XM_011517380.1:c.657del	XP_011515682.1:p.Leu220Ter
XM_011517381.1:c.657del	XP_011515683.1:p.Leu220Ter
XM_011517382.1:c.657del	XP_011515684.1:p.Leu220Ter
XM_011517383.1:c.657del	XP_011515685.1:p.Leu220Ter
XM_011517384.1:c.657del	XP_011515686.1:p.Leu220Ter
XR_928366.1:n.698del
XR_928367.1:n.698del
XR_928368.1:n.700del
XM_011517384.3:c.657del	XP_011515686.1:p.Leu220Ter
XM_017013991.2:c.657del	XP_016869480.1:p.Leu220Ter
XM_017013992.2:c.657del	XP_016869481.1:p.Leu220Ter
XM_017013993.2:c.657del	XP_016869482.1:p.Leu220Ter
XM_017013994.2:c.657del	XP_016869483.1:p.Leu220Ter
XM_017013995.2:c.657del	XP_016869484.1:p.Leu220Ter
XM_017013996.2:c.657del	XP_016869485.1:p.Leu220Ter
XM_017013997.2:c.657del	XP_016869486.1:p.Leu220Ter
XM_017013998.1:c.657del	XP_016869487.1:p.Leu220Ter
XM_017013999.2:c.657del	XP_016869488.1:p.Leu220Ter
XM_017014001.2:c.-477del	XP_016869490.1:n.-477del
XR_001745626.2:n.694del
XR_001745627.2:n.694del
XR_001745628.2:n.694del
XR_001745629.2:n.694del
XR_001745630.2:n.694del
NM_004260.4:c.657del MANE Select	NP_004251.4:p.Leu220Ter