Canonical Allele Identifier: CA2580078820

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 2085184
• ClinVar RCV Id: RCV002996146

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144517584_144517585delinsCT , CM000670.2:g.144517584_144517585delinsCT	GRCh38
NC_000008.10:g.145742968_145742969delinsCT , CM000670.1:g.145742968_145742969delinsCT	GRCh37
NC_000008.9:g.145713776_145713777delinsCT	NCBI36
NG_016430.1:g.5242_5243delinsAG
NG_033083.1:g.4620_4621delinsCT
NG_016430.2:g.5242_5243delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.118+17_118+18delinsAG MANE Select	ENSP00000482313.2:n.118+17_118+18delinsAG
ENST00000534538.1:c.27+17_27+18delinsAG
ENST00000617875.4:c.118+17_118+18delinsAG	ENSP00000482313.1:n.118+17_118+18delinsAG
ENST00000621189.4:c.-954+17_-954+18delinsAG	ENSP00000483145.1:n.-954+17_-954+18delinsAG
NM_004260.3:c.118+17_118+18delinsAG	NP_004251.3:n.118+17_118+18delinsAG
XM_011517380.1:c.118+17_118+18delinsAG	XP_011515682.1:n.118+17_118+18delinsAG
XM_011517381.1:c.118+17_118+18delinsAG	XP_011515683.1:n.118+17_118+18delinsAG
XM_011517382.1:c.118+17_118+18delinsAG	XP_011515684.1:n.118+17_118+18delinsAG
XM_011517383.1:c.118+17_118+18delinsAG	XP_011515685.1:n.118+17_118+18delinsAG
XM_011517384.1:c.118+17_118+18delinsAG	XP_011515686.1:n.118+17_118+18delinsAG
XR_928366.1:n.159+17_159+18delinsAG
XR_928367.1:n.159+17_159+18delinsAG
XR_928368.1:n.161+17_161+18delinsAG
XM_011517384.3:c.118+17_118+18delinsAG	XP_011515686.1:n.118+17_118+18delinsAG
XM_017013991.2:c.118+17_118+18delinsAG	XP_016869480.1:n.118+17_118+18delinsAG
XM_017013992.2:c.118+17_118+18delinsAG	XP_016869481.1:n.118+17_118+18delinsAG
XM_017013993.2:c.118+17_118+18delinsAG	XP_016869482.1:n.118+17_118+18delinsAG
XM_017013994.2:c.118+17_118+18delinsAG	XP_016869483.1:n.118+17_118+18delinsAG
XM_017013995.2:c.118+17_118+18delinsAG	XP_016869484.1:n.118+17_118+18delinsAG
XM_017013996.2:c.118+17_118+18delinsAG	XP_016869485.1:n.118+17_118+18delinsAG
XM_017013997.2:c.118+17_118+18delinsAG	XP_016869486.1:n.118+17_118+18delinsAG
XM_017013998.1:c.118+17_118+18delinsAG	XP_016869487.1:n.118+17_118+18delinsAG
XM_017013999.2:c.118+17_118+18delinsAG	XP_016869488.1:n.118+17_118+18delinsAG
XR_001745626.2:n.155+17_155+18delinsAG
XR_001745627.2:n.155+17_155+18delinsAG
XR_001745628.2:n.155+17_155+18delinsAG
XR_001745629.2:n.155+17_155+18delinsAG
XR_001745630.2:n.155+17_155+18delinsAG
NM_004260.4:c.118+17_118+18delinsAG MANE Select	NP_004251.4:n.118+17_118+18delinsAG