Canonical Allele Identifier: CA653096114

Gene: RECQL4

Linked Data

• COSMIC: COSN2267227

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515678_144515679insA , CM000670.2:g.144515678_144515679insA	GRCh38
NC_000008.10:g.145741062_145741063insA , CM000670.1:g.145741062_145741063insA	GRCh37
NC_000008.9:g.145711870_145711871insA	NCBI36
NG_016430.1:g.7148_7149insT
NG_033083.1:g.2714_2715insA
NG_016430.2:g.7148_7149insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688394.1:n.60_61insT
ENST00000617875.6:c.1258+85_1258+86insT MANE Select	ENSP00000482313.2:n.1258+85_1258+86insT
ENST00000532846.2:c.143+85_143+86insT
ENST00000617875.4:c.1258+85_1258+86insT	ENSP00000482313.1:n.1258+85_1258+86insT
ENST00000621189.4:c.187+85_187+86insT	ENSP00000483145.1:n.187+85_187+86insT
NM_004260.3:c.1258+85_1258+86insT	NP_004251.3:n.1258+85_1258+86insT
XM_011517380.1:c.1258+85_1258+86insT	XP_011515682.1:n.1258+85_1258+86insT
XM_011517381.1:c.1162+85_1162+86insT	XP_011515683.1:n.1162+85_1162+86insT
XM_011517382.1:c.1258+85_1258+86insT	XP_011515684.1:n.1258+85_1258+86insT
XM_011517383.1:c.1258+85_1258+86insT	XP_011515685.1:n.1258+85_1258+86insT
XM_011517384.1:c.1258+85_1258+86insT	XP_011515686.1:n.1258+85_1258+86insT
XM_011517385.1:c.125+85_125+86insT	XP_011515687.1:n.125+85_125+86insT
XR_928366.1:n.1299+85_1299+86insT
XR_928367.1:n.1299+85_1299+86insT
XR_928368.1:n.1301+85_1301+86insT
XM_011517384.3:c.1258+85_1258+86insT	XP_011515686.1:n.1258+85_1258+86insT
XM_017013991.2:c.1258+85_1258+86insT	XP_016869480.1:n.1258+85_1258+86insT
XM_017013992.2:c.1258+85_1258+86insT	XP_016869481.1:n.1258+85_1258+86insT
XM_017013993.2:c.1258+85_1258+86insT	XP_016869482.1:n.1258+85_1258+86insT
XM_017013994.2:c.1162+85_1162+86insT	XP_016869483.1:n.1162+85_1162+86insT
XM_017013995.2:c.1258+85_1258+86insT	XP_016869484.1:n.1258+85_1258+86insT
XM_017013996.2:c.1258+85_1258+86insT	XP_016869485.1:n.1258+85_1258+86insT
XM_017013997.2:c.1258+85_1258+86insT	XP_016869486.1:n.1258+85_1258+86insT
XM_017013998.1:c.1258+85_1258+86insT	XP_016869487.1:n.1258+85_1258+86insT
XM_017013999.2:c.1258+85_1258+86insT	XP_016869488.1:n.1258+85_1258+86insT
XM_017014000.1:c.125+85_125+86insT	XP_016869489.1:n.125+85_125+86insT
XM_017014001.2:c.125+85_125+86insT	XP_016869490.1:n.125+85_125+86insT
XR_001745626.2:n.1295+85_1295+86insT
XR_001745627.2:n.1295+85_1295+86insT
XR_001745628.2:n.1295+85_1295+86insT
XR_001745629.2:n.1295+85_1295+86insT
XR_001745630.2:n.1295+85_1295+86insT
NM_004260.4:c.1258+85_1258+86insT MANE Select	NP_004251.4:n.1258+85_1258+86insT