Canonical Allele Identifier: CA4947782

Gene: RECQL4

Linked Data

• dbSNP Id: rs754952505
• ExAC: 8:145737260 AC / A
• gnomAD v2: 8-145737260-AC-A
• gnomAD v4: 8-144511877-AC-A
• MyVariant Identifiers: chr8:g.145737261del (hg19) ; chr8:g.144511879del (hg38) ; chr8:g.144511878del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511881del , CM000670.2:g.144511881del	GRCh38
NC_000008.10:g.145737264del , CM000670.1:g.145737264del	GRCh37
NC_000008.9:g.145708072del	NCBI36
NG_016430.1:g.10949del
NG_016430.2:g.10949del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3393+33del MANE Select	ENSP00000482313.2:n.3393+33del
ENST00000301323.7:c.410+33del
ENST00000529424.2:n.50-89del
ENST00000531875.2:c.648+24del	ENSP00000477910.1:n.648+24del
ENST00000617875.4:c.3393+33del	ENSP00000482313.1:n.3393+33del
ENST00000621189.4:c.2322+33del	ENSP00000483145.1:n.2322+33del
NM_004260.3:c.3393+33del	NP_004251.3:n.3393+33del
XM_011517380.1:c.3468+33del	XP_011515682.1:n.3468+33del
XM_011517381.1:c.3372+33del	XP_011515683.1:n.3372+33del
XM_011517382.1:c.3276+33del	XP_011515684.1:n.3276+33del
XM_011517383.1:c.3270+33del	XP_011515685.1:n.3270+33del
XM_011517384.1:c.3195+33del	XP_011515686.1:n.3195+33del
XM_011517385.1:c.2331+33del	XP_011515687.1:n.2331+33del
XR_928366.1:n.3353-89del
XR_928367.1:n.3448+33del
XR_928368.1:n.3341+33del
XM_011517384.3:c.3195+33del	XP_011515686.1:n.3195+33del
XM_017013991.2:c.3591del	XP_016869480.1:p.Leu1198CysfsTer?
XM_017013992.2:c.3516del	XP_016869481.1:p.Leu1173CysfsTer?
XM_017013993.2:c.3501del	XP_016869482.1:p.Leu1168CysfsTer?
XM_017013994.2:c.3495del	XP_016869483.1:p.Leu1166CysfsTer?
XM_017013995.2:c.3426del	XP_016869484.1:p.Leu1143CysfsTer?
XM_017013996.2:c.3558+33del	XP_016869485.1:n.3558+33del
XM_017013997.2:c.3393del	XP_016869486.1:p.Leu1132CysfsTer?
XM_017013998.1:c.3483+33del	XP_016869487.1:n.3483+33del
XM_017013999.2:c.3303del	XP_016869488.1:p.Leu1102CysfsTer?
XM_017014000.1:c.2454del	XP_016869489.1:p.Leu819CysfsTer?
XM_017014001.2:c.2364del	XP_016869490.1:p.Leu789CysfsTer?
XR_001745626.2:n.3439-89del
XR_001745627.2:n.3534+33del
XR_001745628.2:n.3425+33del
XR_001745629.2:n.3288+33del
XR_001745630.2:n.3090+33del
NM_004260.4:c.3393+33del MANE Select	NP_004251.4:n.3393+33del