Canonical Allele Identifier: CA1826368147

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 1041318
• ClinVar RCV Id: RCV001345110
• dbSNP Id: rs1827982877

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515208_144515209delinsGG , CM000670.2:g.144515208_144515209delinsGG	GRCh38
NC_000008.10:g.145740592_145740593delinsGG , CM000670.1:g.145740592_145740593delinsGG	GRCh37
NC_000008.9:g.145711400_145711401delinsGG	NCBI36
NG_016430.1:g.7618_7619delinsCC
NG_033083.1:g.2244_2245delinsGG
NG_016430.2:g.7618_7619delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688394.1:n.447_448delinsCC
ENST00000617875.6:c.1424_1425delinsCC MANE Select	ENSP00000482313.2:p.Gln475Pro
ENST00000532846.2:c.309_310delinsCC
ENST00000617875.4:c.1424_1425delinsCC	ENSP00000482313.1:p.Gln475Pro
ENST00000621189.4:c.353_354delinsCC	ENSP00000483145.1:p.Gln118Pro
NM_004260.3:c.1424_1425delinsCC	NP_004251.3:p.Gln475Pro
XM_011517380.1:c.1424_1425delinsCC	XP_011515682.1:p.Gln475Pro
XM_011517381.1:c.1328_1329delinsCC	XP_011515683.1:p.Gln443Pro
XM_011517382.1:c.1424_1425delinsCC	XP_011515684.1:p.Gln475Pro
XM_011517383.1:c.1424_1425delinsCC	XP_011515685.1:p.Gln475Pro
XM_011517384.1:c.1424_1425delinsCC	XP_011515686.1:p.Gln475Pro
XM_011517385.1:c.287_288delinsCC	XP_011515687.1:p.Gln96Pro
XR_928366.1:n.1465_1466delinsCC
XR_928367.1:n.1465_1466delinsCC
XR_928368.1:n.1467_1468delinsCC
XM_011517384.3:c.1424_1425delinsCC	XP_011515686.1:p.Gln475Pro
XM_017013991.2:c.1424_1425delinsCC	XP_016869480.1:p.Gln475Pro
XM_017013992.2:c.1424_1425delinsCC	XP_016869481.1:p.Gln475Pro
XM_017013993.2:c.1424_1425delinsCC	XP_016869482.1:p.Gln475Pro
XM_017013994.2:c.1328_1329delinsCC	XP_016869483.1:p.Gln443Pro
XM_017013995.2:c.1424_1425delinsCC	XP_016869484.1:p.Gln475Pro
XM_017013996.2:c.1424_1425delinsCC	XP_016869485.1:p.Gln475Pro
XM_017013997.2:c.1424_1425delinsCC	XP_016869486.1:p.Gln475Pro
XM_017013998.1:c.1424_1425delinsCC	XP_016869487.1:p.Gln475Pro
XM_017013999.2:c.1424_1425delinsCC	XP_016869488.1:p.Gln475Pro
XM_017014000.1:c.287_288delinsCC	XP_016869489.1:p.Gln96Pro
XM_017014001.2:c.287_288delinsCC	XP_016869490.1:p.Gln96Pro
XR_001745626.2:n.1461_1462delinsCC
XR_001745627.2:n.1461_1462delinsCC
XR_001745628.2:n.1461_1462delinsCC
XR_001745629.2:n.1461_1462delinsCC
XR_001745630.2:n.1461_1462delinsCC
NM_004260.4:c.1424_1425delinsCC MANE Select	NP_004251.4:p.Gln475Pro