Canonical Allele Identifier: CA1826368460

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515631_144515633delinsAGG , CM000670.2:g.144515631_144515633delinsAGG	GRCh38
NC_000008.10:g.145741015_145741017delinsAGG , CM000670.1:g.145741015_145741017delinsAGG	GRCh37
NC_000008.9:g.145711823_145711825delinsAGG	NCBI36
NG_016430.1:g.7194_7196delinsCCT
NG_033083.1:g.2667_2669delinsAGG
NG_016430.2:g.7194_7196delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688394.1:n.106_108delinsCCT
ENST00000617875.6:c.1258+131_1258+133delinsCCT MANE Select	ENSP00000482313.2:n.1258+131_1258+133delinsCCT
ENST00000532846.2:c.143+131_143+133delinsCCT
ENST00000617875.4:c.1258+131_1258+133delinsCCT	ENSP00000482313.1:n.1258+131_1258+133delinsCCT
ENST00000621189.4:c.187+131_187+133delinsCCT	ENSP00000483145.1:n.187+131_187+133delinsCCT
NM_004260.3:c.1258+131_1258+133delinsCCT	NP_004251.3:n.1258+131_1258+133delinsCCT
XM_011517380.1:c.1258+131_1258+133delinsCCT	XP_011515682.1:n.1258+131_1258+133delinsCCT
XM_011517381.1:c.1162+131_1162+133delinsCCT	XP_011515683.1:n.1162+131_1162+133delinsCCT
XM_011517382.1:c.1258+131_1258+133delinsCCT	XP_011515684.1:n.1258+131_1258+133delinsCCT
XM_011517383.1:c.1258+131_1258+133delinsCCT	XP_011515685.1:n.1258+131_1258+133delinsCCT
XM_011517384.1:c.1258+131_1258+133delinsCCT	XP_011515686.1:n.1258+131_1258+133delinsCCT
XM_011517385.1:c.125+131_125+133delinsCCT	XP_011515687.1:n.125+131_125+133delinsCCT
XR_928366.1:n.1299+131_1299+133delinsCCT
XR_928367.1:n.1299+131_1299+133delinsCCT
XR_928368.1:n.1301+131_1301+133delinsCCT
XM_011517384.3:c.1258+131_1258+133delinsCCT	XP_011515686.1:n.1258+131_1258+133delinsCCT
XM_017013991.2:c.1258+131_1258+133delinsCCT	XP_016869480.1:n.1258+131_1258+133delinsCCT
XM_017013992.2:c.1258+131_1258+133delinsCCT	XP_016869481.1:n.1258+131_1258+133delinsCCT
XM_017013993.2:c.1258+131_1258+133delinsCCT	XP_016869482.1:n.1258+131_1258+133delinsCCT
XM_017013994.2:c.1162+131_1162+133delinsCCT	XP_016869483.1:n.1162+131_1162+133delinsCCT
XM_017013995.2:c.1258+131_1258+133delinsCCT	XP_016869484.1:n.1258+131_1258+133delinsCCT
XM_017013996.2:c.1258+131_1258+133delinsCCT	XP_016869485.1:n.1258+131_1258+133delinsCCT
XM_017013997.2:c.1258+131_1258+133delinsCCT	XP_016869486.1:n.1258+131_1258+133delinsCCT
XM_017013998.1:c.1258+131_1258+133delinsCCT	XP_016869487.1:n.1258+131_1258+133delinsCCT
XM_017013999.2:c.1258+131_1258+133delinsCCT	XP_016869488.1:n.1258+131_1258+133delinsCCT
XM_017014000.1:c.125+131_125+133delinsCCT	XP_016869489.1:n.125+131_125+133delinsCCT
XM_017014001.2:c.125+131_125+133delinsCCT	XP_016869490.1:n.125+131_125+133delinsCCT
XR_001745626.2:n.1295+131_1295+133delinsCCT
XR_001745627.2:n.1295+131_1295+133delinsCCT
XR_001745628.2:n.1295+131_1295+133delinsCCT
XR_001745629.2:n.1295+131_1295+133delinsCCT
XR_001745630.2:n.1295+131_1295+133delinsCCT
NM_004260.4:c.1258+131_1258+133delinsCCT MANE Select	NP_004251.4:n.1258+131_1258+133delinsCCT