Canonical Allele Identifier: CA2573142943

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 1456611
• ClinVar RCV Id: RCV001951234
• dbSNP Id: rs2130728440

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144516656_144516657insG , CM000670.2:g.144516656_144516657insG	GRCh38
NC_000008.10:g.145742040_145742041insG , CM000670.1:g.145742040_145742041insG	GRCh37
NC_000008.9:g.145712848_145712849insG	NCBI36
NG_016430.1:g.6170_6171insC
NG_033083.1:g.3692_3693insG
NG_016430.2:g.6170_6171insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.462_463insC MANE Select	ENSP00000482313.2:p.Val155ArgfsTer3
ENST00000524998.1:c.228-244_228-243insC
ENST00000534538.1:c.313_314insC
ENST00000617875.4:c.462_463insC	ENSP00000482313.1:p.Val155ArgfsTer3
ENST00000621189.4:c.-610_-609insC	ENSP00000483145.1:n.-610_-609insC
NM_004260.3:c.462_463insC	NP_004251.3:p.Val155ArgfsTer3
XM_011517380.1:c.462_463insC	XP_011515682.1:p.Val155ArgfsTer3
XM_011517381.1:c.462_463insC	XP_011515683.1:p.Val155ArgfsTer3
XM_011517382.1:c.462_463insC	XP_011515684.1:p.Val155ArgfsTer3
XM_011517383.1:c.462_463insC	XP_011515685.1:p.Val155ArgfsTer3
XM_011517384.1:c.462_463insC	XP_011515686.1:p.Val155ArgfsTer3
XR_928366.1:n.503_504insC
XR_928367.1:n.503_504insC
XR_928368.1:n.505_506insC
XM_011517384.3:c.462_463insC	XP_011515686.1:p.Val155ArgfsTer3
XM_017013991.2:c.462_463insC	XP_016869480.1:p.Val155ArgfsTer3
XM_017013992.2:c.462_463insC	XP_016869481.1:p.Val155ArgfsTer3
XM_017013993.2:c.462_463insC	XP_016869482.1:p.Val155ArgfsTer3
XM_017013994.2:c.462_463insC	XP_016869483.1:p.Val155ArgfsTer3
XM_017013995.2:c.462_463insC	XP_016869484.1:p.Val155ArgfsTer3
XM_017013996.2:c.462_463insC	XP_016869485.1:p.Val155ArgfsTer3
XM_017013997.2:c.462_463insC	XP_016869486.1:p.Val155ArgfsTer3
XM_017013998.1:c.462_463insC	XP_016869487.1:p.Val155ArgfsTer3
XM_017013999.2:c.462_463insC	XP_016869488.1:p.Val155ArgfsTer3
XM_017014001.2:c.-672_-671insC	XP_016869490.1:n.-672_-671insC
XR_001745626.2:n.499_500insC
XR_001745627.2:n.499_500insC
XR_001745628.2:n.499_500insC
XR_001745629.2:n.499_500insC
XR_001745630.2:n.499_500insC
NM_004260.4:c.462_463insC MANE Select	NP_004251.4:p.Val155ArgfsTer3