Canonical Allele Identifier: CA2579283127

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 2845026
• ClinVar RCV Id: RCV003616687

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515984_144515987del , CM000670.2:g.144515984_144515987del	GRCh38
NC_000008.10:g.145741368_145741371del , CM000670.1:g.145741368_145741371del	GRCh37
NC_000008.9:g.145712176_145712179del	NCBI36
NG_016430.1:g.6841_6844del
NG_033083.1:g.3020_3023del
NG_016430.2:g.6841_6844del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.1131+2_1131+5del MANE Select	ENSP00000482313.2:n.1131+2_1131+5del
ENST00000524998.1:c.653+2_653+5del
ENST00000532846.2:c.16+2_16+5del
ENST00000617875.4:c.1131+2_1131+5del	ENSP00000482313.1:n.1131+2_1131+5del
ENST00000621189.4:c.60+2_60+5del	ENSP00000483145.1:n.60+2_60+5del
NM_004260.3:c.1131+2_1131+5del	NP_004251.3:n.1131+2_1131+5del
XM_011517380.1:c.1131+2_1131+5del	XP_011515682.1:n.1131+2_1131+5del
XM_011517381.1:c.1035+2_1035+5del	XP_011515683.1:n.1035+2_1035+5del
XM_011517382.1:c.1131+2_1131+5del	XP_011515684.1:n.1131+2_1131+5del
XM_011517383.1:c.1131+2_1131+5del	XP_011515685.1:n.1131+2_1131+5del
XM_011517384.1:c.1131+2_1131+5del	XP_011515686.1:n.1131+2_1131+5del
XM_011517385.1:c.-3+2_-3+5del	XP_011515687.1:n.-3+2_-3+5del
XR_928366.1:n.1172+2_1172+5del
XR_928367.1:n.1172+2_1172+5del
XR_928368.1:n.1174+2_1174+5del
XM_011517384.3:c.1131+2_1131+5del	XP_011515686.1:n.1131+2_1131+5del
XM_017013991.2:c.1131+2_1131+5del	XP_016869480.1:n.1131+2_1131+5del
XM_017013992.2:c.1131+2_1131+5del	XP_016869481.1:n.1131+2_1131+5del
XM_017013993.2:c.1131+2_1131+5del	XP_016869482.1:n.1131+2_1131+5del
XM_017013994.2:c.1035+2_1035+5del	XP_016869483.1:n.1035+2_1035+5del
XM_017013995.2:c.1131+2_1131+5del	XP_016869484.1:n.1131+2_1131+5del
XM_017013996.2:c.1131+2_1131+5del	XP_016869485.1:n.1131+2_1131+5del
XM_017013997.2:c.1131+2_1131+5del	XP_016869486.1:n.1131+2_1131+5del
XM_017013998.1:c.1131+2_1131+5del	XP_016869487.1:n.1131+2_1131+5del
XM_017013999.2:c.1131+2_1131+5del	XP_016869488.1:n.1131+2_1131+5del
XM_017014000.1:c.-3+2_-3+5del	XP_016869489.1:n.-3+2_-3+5del
XM_017014001.2:c.-3+2_-3+5del	XP_016869490.1:n.-3+2_-3+5del
XR_001745626.2:n.1168+2_1168+5del
XR_001745627.2:n.1168+2_1168+5del
XR_001745628.2:n.1168+2_1168+5del
XR_001745629.2:n.1168+2_1168+5del
XR_001745630.2:n.1168+2_1168+5del
NM_004260.4:c.1131+2_1131+5del MANE Select	NP_004251.4:n.1131+2_1131+5del