Canonical Allele Identifier: CA891842670

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 574681
• ClinVar RCV Id: RCV000696676
• dbSNP Id: rs1564802464
• MyVariant Identifiers: chr8:g.145740617del (hg19) ; chr8:g.144515233del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515233del , CM000670.2:g.144515233del	GRCh38
NC_000008.10:g.145740617del , CM000670.1:g.145740617del	GRCh37
NC_000008.9:g.145711425del	NCBI36
NG_016430.1:g.7594del
NG_033083.1:g.2269del
NG_016430.2:g.7594del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688394.1:n.423del
ENST00000617875.6:c.1400del MANE Select	ENSP00000482313.2:p.Ala467ValfsTer?
ENST00000532846.2:c.285del
ENST00000617875.4:c.1400del	ENSP00000482313.1:p.Ala467ValfsTer?
ENST00000621189.4:c.329del	ENSP00000483145.1:p.Ala110ValfsTer?
NM_004260.3:c.1400del	NP_004251.3:p.Ala467ValfsTer?
XM_011517380.1:c.1400del	XP_011515682.1:p.Ala467ValfsTer?
XM_011517381.1:c.1304del	XP_011515683.1:p.Ala435ValfsTer?
XM_011517382.1:c.1400del	XP_011515684.1:p.Ala467ValfsTer?
XM_011517383.1:c.1400del	XP_011515685.1:p.Ala467ValfsTer?
XM_011517384.1:c.1400del	XP_011515686.1:p.Ala467ValfsTer?
XM_011517385.1:c.263del	XP_011515687.1:p.Ala88ValfsTer?
XR_928366.1:n.1441del
XR_928367.1:n.1441del
XR_928368.1:n.1443del
XM_011517384.3:c.1400del	XP_011515686.1:p.Ala467ValfsTer?
XM_017013991.2:c.1400del	XP_016869480.1:p.Ala467ValfsTer?
XM_017013992.2:c.1400del	XP_016869481.1:p.Ala467ValfsTer?
XM_017013993.2:c.1400del	XP_016869482.1:p.Ala467ValfsTer?
XM_017013994.2:c.1304del	XP_016869483.1:p.Ala435ValfsTer?
XM_017013995.2:c.1400del	XP_016869484.1:p.Ala467ValfsTer?
XM_017013996.2:c.1400del	XP_016869485.1:p.Ala467ValfsTer?
XM_017013997.2:c.1400del	XP_016869486.1:p.Ala467ValfsTer?
XM_017013998.1:c.1400del	XP_016869487.1:p.Ala467ValfsTer?
XM_017013999.2:c.1400del	XP_016869488.1:p.Ala467ValfsTer?
XM_017014000.1:c.263del	XP_016869489.1:p.Ala88ValfsTer?
XM_017014001.2:c.263del	XP_016869490.1:p.Ala88ValfsTer?
XR_001745626.2:n.1437del
XR_001745627.2:n.1437del
XR_001745628.2:n.1437del
XR_001745629.2:n.1437del
XR_001745630.2:n.1437del
NM_004260.4:c.1400del MANE Select	NP_004251.4:p.Ala467ValfsTer?