Canonical Allele Identifier: CA2561557294

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144516630_144516631del , CM000670.2:g.144516630_144516631del	GRCh38
NC_000008.10:g.145742014_145742015del , CM000670.1:g.145742014_145742015del	GRCh37
NC_000008.9:g.145712822_145712823del	NCBI36
NG_016430.1:g.6196_6197del
NG_033083.1:g.3666_3667del
NG_016430.2:g.6196_6197del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.488_489del MANE Select	ENSP00000482313.2:p.Pro163ArgfsTer?
ENST00000524998.1:c.228-218_228-217del
ENST00000534538.1:c.339_340del
ENST00000617875.4:c.488_489del	ENSP00000482313.1:p.Pro163ArgfsTer?
ENST00000621189.4:c.-584_-583del	ENSP00000483145.1:n.-584_-583del
NM_004260.3:c.488_489del	NP_004251.3:p.Pro163ArgfsTer?
XM_011517380.1:c.488_489del	XP_011515682.1:p.Pro163ArgfsTer?
XM_011517381.1:c.488_489del	XP_011515683.1:p.Pro163ArgfsTer?
XM_011517382.1:c.488_489del	XP_011515684.1:p.Pro163ArgfsTer?
XM_011517383.1:c.488_489del	XP_011515685.1:p.Pro163ArgfsTer?
XM_011517384.1:c.488_489del	XP_011515686.1:p.Pro163ArgfsTer?
XR_928366.1:n.529_530del
XR_928367.1:n.529_530del
XR_928368.1:n.531_532del
XM_011517384.3:c.488_489del	XP_011515686.1:p.Pro163ArgfsTer?
XM_017013991.2:c.488_489del	XP_016869480.1:p.Pro163ArgfsTer?
XM_017013992.2:c.488_489del	XP_016869481.1:p.Pro163ArgfsTer?
XM_017013993.2:c.488_489del	XP_016869482.1:p.Pro163ArgfsTer?
XM_017013994.2:c.488_489del	XP_016869483.1:p.Pro163ArgfsTer?
XM_017013995.2:c.488_489del	XP_016869484.1:p.Pro163ArgfsTer?
XM_017013996.2:c.488_489del	XP_016869485.1:p.Pro163ArgfsTer?
XM_017013997.2:c.488_489del	XP_016869486.1:p.Pro163ArgfsTer?
XM_017013998.1:c.488_489del	XP_016869487.1:p.Pro163ArgfsTer?
XM_017013999.2:c.488_489del	XP_016869488.1:p.Pro163ArgfsTer?
XM_017014001.2:c.-646_-645del	XP_016869490.1:n.-646_-645del
XR_001745626.2:n.525_526del
XR_001745627.2:n.525_526del
XR_001745628.2:n.525_526del
XR_001745629.2:n.525_526del
XR_001745630.2:n.525_526del
NM_004260.4:c.488_489del MANE Select	NP_004251.4:p.Pro163ArgfsTer?