Canonical Allele Identifier: CA2689127714

Gene: RECQL4

Linked Data

• gnomAD v4: 8-144516666-AAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144516667_144516669del , CM000670.2:g.144516667_144516669del	GRCh38
NC_000008.10:g.145742051_145742053del , CM000670.1:g.145742051_145742053del	GRCh37
NC_000008.9:g.145712859_145712861del	NCBI36
NG_016430.1:g.6158_6160del
NG_033083.1:g.3703_3705del
NG_016430.2:g.6158_6160del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.450_452del MANE Select	ENSP00000482313.2:p.Phe151del
ENST00000524998.1:c.228-256_228-254del
ENST00000534538.1:c.309-8_309-6del
ENST00000617875.4:c.450_452del	ENSP00000482313.1:p.Phe151del
ENST00000621189.4:c.-622_-620del	ENSP00000483145.1:n.-622_-620del
NM_004260.3:c.450_452del	NP_004251.3:p.Phe151del
XM_011517380.1:c.450_452del	XP_011515682.1:p.Phe151del
XM_011517381.1:c.450_452del	XP_011515683.1:p.Phe151del
XM_011517382.1:c.450_452del	XP_011515684.1:p.Phe151del
XM_011517383.1:c.450_452del	XP_011515685.1:p.Phe151del
XM_011517384.1:c.450_452del	XP_011515686.1:p.Phe151del
XR_928366.1:n.491_493del
XR_928367.1:n.491_493del
XR_928368.1:n.493_495del
XM_011517384.3:c.450_452del	XP_011515686.1:p.Phe151del
XM_017013991.2:c.450_452del	XP_016869480.1:p.Phe151del
XM_017013992.2:c.450_452del	XP_016869481.1:p.Phe151del
XM_017013993.2:c.450_452del	XP_016869482.1:p.Phe151del
XM_017013994.2:c.450_452del	XP_016869483.1:p.Phe151del
XM_017013995.2:c.450_452del	XP_016869484.1:p.Phe151del
XM_017013996.2:c.450_452del	XP_016869485.1:p.Phe151del
XM_017013997.2:c.450_452del	XP_016869486.1:p.Phe151del
XM_017013998.1:c.450_452del	XP_016869487.1:p.Phe151del
XM_017013999.2:c.450_452del	XP_016869488.1:p.Phe151del
XM_017014001.2:c.-684_-682del	XP_016869490.1:n.-684_-682del
XR_001745626.2:n.487_489del
XR_001745627.2:n.487_489del
XR_001745628.2:n.487_489del
XR_001745629.2:n.487_489del
XR_001745630.2:n.487_489del
NM_004260.4:c.450_452del MANE Select	NP_004251.4:p.Phe151del