Canonical Allele Identifier: CA2689129779

Gene: RECQL4

Linked Data

• gnomAD v4: 8-144517640-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144517640_144517641insT , CM000670.2:g.144517640_144517641insT	GRCh38
NC_000008.10:g.145743024_145743025insT , CM000670.1:g.145743024_145743025insT	GRCh37
NC_000008.9:g.145713832_145713833insT	NCBI36
NG_016430.1:g.5186_5187insA
NG_033083.1:g.4676_4677insT
NG_016430.2:g.5186_5187insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.85-6_85-5insA MANE Select	ENSP00000482313.2:n.85-6_85-5insA
ENST00000617875.4:c.85-6_85-5insA	ENSP00000482313.1:n.85-6_85-5insA
ENST00000621189.4:c.-993_-992insA	ENSP00000483145.1:n.-993_-992insA
NM_004260.3:c.85-6_85-5insA	NP_004251.3:n.85-6_85-5insA
XM_011517380.1:c.85-6_85-5insA	XP_011515682.1:n.85-6_85-5insA
XM_011517381.1:c.85-6_85-5insA	XP_011515683.1:n.85-6_85-5insA
XM_011517382.1:c.85-6_85-5insA	XP_011515684.1:n.85-6_85-5insA
XM_011517383.1:c.85-6_85-5insA	XP_011515685.1:n.85-6_85-5insA
XM_011517384.1:c.85-6_85-5insA	XP_011515686.1:n.85-6_85-5insA
XR_928366.1:n.126-6_126-5insA
XR_928367.1:n.126-6_126-5insA
XR_928368.1:n.128-6_128-5insA
XM_011517384.3:c.85-6_85-5insA	XP_011515686.1:n.85-6_85-5insA
XM_017013991.2:c.85-6_85-5insA	XP_016869480.1:n.85-6_85-5insA
XM_017013992.2:c.85-6_85-5insA	XP_016869481.1:n.85-6_85-5insA
XM_017013993.2:c.85-6_85-5insA	XP_016869482.1:n.85-6_85-5insA
XM_017013994.2:c.85-6_85-5insA	XP_016869483.1:n.85-6_85-5insA
XM_017013995.2:c.85-6_85-5insA	XP_016869484.1:n.85-6_85-5insA
XM_017013996.2:c.85-6_85-5insA	XP_016869485.1:n.85-6_85-5insA
XM_017013997.2:c.85-6_85-5insA	XP_016869486.1:n.85-6_85-5insA
XM_017013998.1:c.85-6_85-5insA	XP_016869487.1:n.85-6_85-5insA
XM_017013999.2:c.85-6_85-5insA	XP_016869488.1:n.85-6_85-5insA
XR_001745626.2:n.122-6_122-5insA
XR_001745627.2:n.122-6_122-5insA
XR_001745628.2:n.122-6_122-5insA
XR_001745629.2:n.122-6_122-5insA
XR_001745630.2:n.122-6_122-5insA
NM_004260.4:c.85-6_85-5insA MANE Select	NP_004251.4:n.85-6_85-5insA