Canonical Allele Identifier: CA4948875

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 1593271
• ClinVar RCV Id: RCV002112751
• dbSNP Id: rs556942149
• ExAC: 8:145740636 CAG / C
• gnomAD v2: 8-145740636-CAG-C
• gnomAD v3: 8-144515252-CAG-C
• gnomAD v4: 8-144515252-CAG-C
• MyVariant Identifiers: chr8:g.145740637_145740638del (hg19) ; chr8:g.144515253_144515254del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515254_144515255del , CM000670.2:g.144515254_144515255del	GRCh38
NC_000008.10:g.145740638_145740639del , CM000670.1:g.145740638_145740639del	GRCh37
NC_000008.9:g.145711446_145711447del	NCBI36
NG_016430.1:g.7573_7574del
NG_033083.1:g.2290_2291del
NG_016430.2:g.7573_7574del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688394.1:n.414-12_414-11del
ENST00000617875.6:c.1391-12_1391-11del MANE Select	ENSP00000482313.2:n.1391-12_1391-11del
ENST00000532846.2:c.276-12_276-11del
ENST00000617875.4:c.1391-12_1391-11del	ENSP00000482313.1:n.1391-12_1391-11del
ENST00000621189.4:c.320-12_320-11del	ENSP00000483145.1:n.320-12_320-11del
NM_004260.3:c.1391-12_1391-11del	NP_004251.3:n.1391-12_1391-11del
XM_011517380.1:c.1391-12_1391-11del	XP_011515682.1:n.1391-12_1391-11del
XM_011517381.1:c.1295-12_1295-11del	XP_011515683.1:n.1295-12_1295-11del
XM_011517382.1:c.1391-12_1391-11del	XP_011515684.1:n.1391-12_1391-11del
XM_011517383.1:c.1391-12_1391-11del	XP_011515685.1:n.1391-12_1391-11del
XM_011517384.1:c.1391-12_1391-11del	XP_011515686.1:n.1391-12_1391-11del
XM_011517385.1:c.254-12_254-11del	XP_011515687.1:n.254-12_254-11del
XR_928366.1:n.1432-12_1432-11del
XR_928367.1:n.1432-12_1432-11del
XR_928368.1:n.1434-12_1434-11del
XM_011517384.3:c.1391-12_1391-11del	XP_011515686.1:n.1391-12_1391-11del
XM_017013991.2:c.1391-12_1391-11del	XP_016869480.1:n.1391-12_1391-11del
XM_017013992.2:c.1391-12_1391-11del	XP_016869481.1:n.1391-12_1391-11del
XM_017013993.2:c.1391-12_1391-11del	XP_016869482.1:n.1391-12_1391-11del
XM_017013994.2:c.1295-12_1295-11del	XP_016869483.1:n.1295-12_1295-11del
XM_017013995.2:c.1391-12_1391-11del	XP_016869484.1:n.1391-12_1391-11del
XM_017013996.2:c.1391-12_1391-11del	XP_016869485.1:n.1391-12_1391-11del
XM_017013997.2:c.1391-12_1391-11del	XP_016869486.1:n.1391-12_1391-11del
XM_017013998.1:c.1391-12_1391-11del	XP_016869487.1:n.1391-12_1391-11del
XM_017013999.2:c.1391-12_1391-11del	XP_016869488.1:n.1391-12_1391-11del
XM_017014000.1:c.254-12_254-11del	XP_016869489.1:n.254-12_254-11del
XM_017014001.2:c.254-12_254-11del	XP_016869490.1:n.254-12_254-11del
XR_001745626.2:n.1428-12_1428-11del
XR_001745627.2:n.1428-12_1428-11del
XR_001745628.2:n.1428-12_1428-11del
XR_001745629.2:n.1428-12_1428-11del
XR_001745630.2:n.1428-12_1428-11del
NM_004260.4:c.1391-12_1391-11del MANE Select	NP_004251.4:n.1391-12_1391-11del