Canonical Allele Identifier: CA585833074

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 847133
• ClinVar RCV Id: RCV001050612
• dbSNP Id: rs1564801266
• gnomAD v2: 8-145740356-CA-C
• gnomAD v4: 8-144514972-CA-C
• MyVariant Identifiers: chr8:g.145740357del (hg19) ; chr8:g.144514973del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144514974del , CM000670.2:g.144514974del	GRCh38
NC_000008.10:g.145740358del , CM000670.1:g.145740358del	GRCh37
NC_000008.9:g.145711166del	NCBI36
NG_016430.1:g.7854del
NG_033083.1:g.2010del
NG_016430.2:g.7854del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688394.1:n.606del
ENST00000617875.6:c.1583del MANE Select	ENSP00000482313.2:p.Leu528TrpfsTer30
ENST00000532846.2:c.438del
ENST00000617875.4:c.1583del	ENSP00000482313.1:p.Leu528TrpfsTer30
ENST00000621189.4:c.512del	ENSP00000483145.1:p.Leu171TrpfsTer30
NM_004260.3:c.1583del	NP_004251.3:p.Leu528TrpfsTer30
XM_011517380.1:c.1583del	XP_011515682.1:p.Leu528TrpfsTer30
XM_011517381.1:c.1487del	XP_011515683.1:p.Leu496TrpfsTer30
XM_011517382.1:c.1583del	XP_011515684.1:p.Leu528TrpfsTer30
XM_011517383.1:c.1583del	XP_011515685.1:p.Leu528TrpfsTer30
XM_011517384.1:c.1583del	XP_011515686.1:p.Leu528TrpfsTer30
XM_011517385.1:c.446del	XP_011515687.1:p.Leu149TrpfsTer30
XR_928366.1:n.1624del
XR_928367.1:n.1624del
XR_928368.1:n.1626del
XM_011517384.3:c.1583del	XP_011515686.1:p.Leu528TrpfsTer30
XM_017013991.2:c.1583del	XP_016869480.1:p.Leu528TrpfsTer30
XM_017013992.2:c.1583del	XP_016869481.1:p.Leu528TrpfsTer30
XM_017013993.2:c.1583del	XP_016869482.1:p.Leu528TrpfsTer30
XM_017013994.2:c.1487del	XP_016869483.1:p.Leu496TrpfsTer30
XM_017013995.2:c.1583del	XP_016869484.1:p.Leu528TrpfsTer30
XM_017013996.2:c.1583del	XP_016869485.1:p.Leu528TrpfsTer30
XM_017013997.2:c.1583del	XP_016869486.1:p.Leu528TrpfsTer30
XM_017013998.1:c.1583del	XP_016869487.1:p.Leu528TrpfsTer30
XM_017013999.2:c.1583del	XP_016869488.1:p.Leu528TrpfsTer30
XM_017014000.1:c.446del	XP_016869489.1:p.Leu149TrpfsTer30
XM_017014001.2:c.446del	XP_016869490.1:p.Leu149TrpfsTer30
XR_001745626.2:n.1620del
XR_001745627.2:n.1620del
XR_001745628.2:n.1620del
XR_001745629.2:n.1620del
XR_001745630.2:n.1620del
NM_004260.4:c.1583del MANE Select	NP_004251.4:p.Leu528TrpfsTer30