Canonical Allele Identifier: CA1826368184

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515252_144515254delinsCAG , CM000670.2:g.144515252_144515254delinsCAG	GRCh38
NC_000008.10:g.145740636_145740638delinsCAG , CM000670.1:g.145740636_145740638delinsCAG	GRCh37
NC_000008.9:g.145711444_145711446delinsCAG	NCBI36
NG_016430.1:g.7573_7575delinsCTG
NG_033083.1:g.2288_2290delinsCAG
NG_016430.2:g.7573_7575delinsCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000688394.1:n.414-12_414-10delinsCTG
ENST00000617875.6:c.1391-12_1391-10delinsCTG MANE Select	ENSP00000482313.2:n.1391-12_1391-10delins...
ENST00000532846.2:c.276-12_276-10delinsCTG
ENST00000617875.4:c.1391-12_1391-10delinsCTG	ENSP00000482313.1:n.1391-12_1391-10delins...
ENST00000621189.4:c.320-12_320-10delinsCTG	ENSP00000483145.1:n.320-12_320-10delinsCT...
NM_004260.3:c.1391-12_1391-10delinsCTG	NP_004251.3:n.1391-12_1391-10delinsCTG
XM_011517380.1:c.1391-12_1391-10delinsCTG	XP_011515682.1:n.1391-12_1391-10delinsCTG...
XM_011517381.1:c.1295-12_1295-10delinsCTG	XP_011515683.1:n.1295-12_1295-10delinsCTG...
XM_011517382.1:c.1391-12_1391-10delinsCTG	XP_011515684.1:n.1391-12_1391-10delinsCTG...
XM_011517383.1:c.1391-12_1391-10delinsCTG	XP_011515685.1:n.1391-12_1391-10delinsCTG...
XM_011517384.1:c.1391-12_1391-10delinsCTG	XP_011515686.1:n.1391-12_1391-10delinsCTG...
XM_011517385.1:c.254-12_254-10delinsCTG	XP_011515687.1:n.254-12_254-10delinsCTG
XR_928366.1:n.1432-12_1432-10delinsCTG
XR_928367.1:n.1432-12_1432-10delinsCTG
XR_928368.1:n.1434-12_1434-10delinsCTG
XM_011517384.3:c.1391-12_1391-10delinsCTG	XP_011515686.1:n.1391-12_1391-10delinsCTG...
XM_017013991.2:c.1391-12_1391-10delinsCTG	XP_016869480.1:n.1391-12_1391-10delinsCTG...
XM_017013992.2:c.1391-12_1391-10delinsCTG	XP_016869481.1:n.1391-12_1391-10delinsCTG...
XM_017013993.2:c.1391-12_1391-10delinsCTG	XP_016869482.1:n.1391-12_1391-10delinsCTG...
XM_017013994.2:c.1295-12_1295-10delinsCTG	XP_016869483.1:n.1295-12_1295-10delinsCTG...
XM_017013995.2:c.1391-12_1391-10delinsCTG	XP_016869484.1:n.1391-12_1391-10delinsCTG...
XM_017013996.2:c.1391-12_1391-10delinsCTG	XP_016869485.1:n.1391-12_1391-10delinsCTG...
XM_017013997.2:c.1391-12_1391-10delinsCTG	XP_016869486.1:n.1391-12_1391-10delinsCTG...
XM_017013998.1:c.1391-12_1391-10delinsCTG	XP_016869487.1:n.1391-12_1391-10delinsCTG...
XM_017013999.2:c.1391-12_1391-10delinsCTG	XP_016869488.1:n.1391-12_1391-10delinsCTG...
XM_017014000.1:c.254-12_254-10delinsCTG	XP_016869489.1:n.254-12_254-10delinsCTG
XM_017014001.2:c.254-12_254-10delinsCTG	XP_016869490.1:n.254-12_254-10delinsCTG
XR_001745626.2:n.1428-12_1428-10delinsCTG
XR_001745627.2:n.1428-12_1428-10delinsCTG
XR_001745628.2:n.1428-12_1428-10delinsCTG
XR_001745629.2:n.1428-12_1428-10delinsCTG
XR_001745630.2:n.1428-12_1428-10delinsCTG
NM_004260.4:c.1391-12_1391-10delinsCTG MANE Select	NP_004251.4:n.1391-12_1391-10delinsCTG