Canonical Allele Identifier: CA1120282208

Gene: RECQL4

Linked Data

• dbSNP Id: rs1815011589
• gnomAD v3: 8-144516423-A-AGCACCAGGACCAAGGACAGCCGAC
• gnomAD v4: 8-144516423-A-AGCACCAGGACCAAGGACAGCCGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144516424_144516447dup , CM000670.2:g.144516424_144516447dup	GRCh38
NC_000008.10:g.145741808_145741831dup , CM000670.1:g.145741808_145741831dup	GRCh37
NC_000008.9:g.145712616_145712639dup	NCBI36
NG_016430.1:g.6380_6403dup
NG_033083.1:g.3460_3483dup
NG_016430.2:g.6380_6403dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.672_695dup MANE Select	ENSP00000482313.2:p.Ala232_Gly233insSerAlaValLeuGlyProGlyAla
ENST00000524998.1:c.228-34_228-11dup
ENST00000534538.1:c.523_546dup
ENST00000617875.4:c.672_695dup	ENSP00000482313.1:p.Ala232_Gly233insSerAlaValLeuGlyProGlyAla
ENST00000621189.4:c.-400_-377dup	ENSP00000483145.1:n.-400_-377dup
NM_004260.3:c.672_695dup	NP_004251.3:p.Ala232_Gly233insSerAlaValLeuGlyProGlyAla
XM_011517380.1:c.672_695dup	XP_011515682.1:p.Ala232_Gly233insSerAlaValLeuGlyProGlyAla
XM_011517381.1:c.672_695dup	XP_011515683.1:p.Ala232_Gly233insSerAlaValLeuGlyProGlyAla
XM_011517382.1:c.672_695dup	XP_011515684.1:p.Ala232_Gly233insSerAlaValLeuGlyProGlyAla
XM_011517383.1:c.672_695dup	XP_011515685.1:p.Ala232_Gly233insSerAlaValLeuGlyProGlyAla
XM_011517384.1:c.672_695dup	XP_011515686.1:p.Ala232_Gly233insSerAlaValLeuGlyProGlyAla
XR_928366.1:n.713_736dup
XR_928367.1:n.713_736dup
XR_928368.1:n.715_738dup
XM_011517384.3:c.672_695dup	XP_011515686.1:p.Ala232_Gly233insSerAlaValLeuGlyProGlyAla
XM_017013991.2:c.672_695dup	XP_016869480.1:p.Ala232_Gly233insSerAlaValLeuGlyProGlyAla
XM_017013992.2:c.672_695dup	XP_016869481.1:p.Ala232_Gly233insSerAlaValLeuGlyProGlyAla
XM_017013993.2:c.672_695dup	XP_016869482.1:p.Ala232_Gly233insSerAlaValLeuGlyProGlyAla
XM_017013994.2:c.672_695dup	XP_016869483.1:p.Ala232_Gly233insSerAlaValLeuGlyProGlyAla
XM_017013995.2:c.672_695dup	XP_016869484.1:p.Ala232_Gly233insSerAlaValLeuGlyProGlyAla
XM_017013996.2:c.672_695dup	XP_016869485.1:p.Ala232_Gly233insSerAlaValLeuGlyProGlyAla
XM_017013997.2:c.672_695dup	XP_016869486.1:p.Ala232_Gly233insSerAlaValLeuGlyProGlyAla
XM_017013998.1:c.672_695dup	XP_016869487.1:p.Ala232_Gly233insSerAlaValLeuGlyProGlyAla
XM_017013999.2:c.672_695dup	XP_016869488.1:p.Ala232_Gly233insSerAlaValLeuGlyProGlyAla
XM_017014001.2:c.-462_-439dup	XP_016869490.1:n.-462_-439dup
XR_001745626.2:n.709_732dup
XR_001745627.2:n.709_732dup
XR_001745628.2:n.709_732dup
XR_001745629.2:n.709_732dup
XR_001745630.2:n.709_732dup
NM_004260.4:c.672_695dup MANE Select	NP_004251.4:p.Ala232_Gly233insSerAlaValLeuGlyProGlyAla