Canonical Allele Identifier: CA2579283179

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144516649_144516651del , CM000670.2:g.144516649_144516651del	GRCh38
NC_000008.10:g.145742033_145742035del , CM000670.1:g.145742033_145742035del	GRCh37
NC_000008.9:g.145712841_145712843del	NCBI36
NG_016430.1:g.6179_6181del
NG_033083.1:g.3685_3687del
NG_016430.2:g.6179_6181del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.471_473del MANE Select	ENSP00000482313.2:p.Asp157del
ENST00000524998.1:c.228-235_228-233del
ENST00000534538.1:c.322_324del
ENST00000617875.4:c.471_473del	ENSP00000482313.1:p.Asp157del
ENST00000621189.4:c.-601_-599del	ENSP00000483145.1:n.-601_-599del
NM_004260.3:c.471_473del	NP_004251.3:p.Asp157del
XM_011517380.1:c.471_473del	XP_011515682.1:p.Asp157del
XM_011517381.1:c.471_473del	XP_011515683.1:p.Asp157del
XM_011517382.1:c.471_473del	XP_011515684.1:p.Asp157del
XM_011517383.1:c.471_473del	XP_011515685.1:p.Asp157del
XM_011517384.1:c.471_473del	XP_011515686.1:p.Asp157del
XR_928366.1:n.512_514del
XR_928367.1:n.512_514del
XR_928368.1:n.514_516del
XM_011517384.3:c.471_473del	XP_011515686.1:p.Asp157del
XM_017013991.2:c.471_473del	XP_016869480.1:p.Asp157del
XM_017013992.2:c.471_473del	XP_016869481.1:p.Asp157del
XM_017013993.2:c.471_473del	XP_016869482.1:p.Asp157del
XM_017013994.2:c.471_473del	XP_016869483.1:p.Asp157del
XM_017013995.2:c.471_473del	XP_016869484.1:p.Asp157del
XM_017013996.2:c.471_473del	XP_016869485.1:p.Asp157del
XM_017013997.2:c.471_473del	XP_016869486.1:p.Asp157del
XM_017013998.1:c.471_473del	XP_016869487.1:p.Asp157del
XM_017013999.2:c.471_473del	XP_016869488.1:p.Asp157del
XM_017014001.2:c.-663_-661del	XP_016869490.1:n.-663_-661del
XR_001745626.2:n.508_510del
XR_001745627.2:n.508_510del
XR_001745628.2:n.508_510del
XR_001745629.2:n.508_510del
XR_001745630.2:n.508_510del
NM_004260.4:c.471_473del MANE Select	NP_004251.4:p.Asp157del