Canonical Allele Identifier: CA1826368422

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515575_144515577delinsACT , CM000670.2:g.144515575_144515577delinsACT	GRCh38
NC_000008.10:g.145740959_145740961delinsACT , CM000670.1:g.145740959_145740961delinsACT	GRCh37
NC_000008.9:g.145711767_145711769delinsACT	NCBI36
NG_016430.1:g.7250_7252delinsAGT
NG_033083.1:g.2611_2613delinsACT
NG_016430.2:g.7250_7252delinsAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688394.1:n.162_164delinsAGT
ENST00000617875.6:c.1259-120_1259-118delinsAGT MANE Select	ENSP00000482313.2:n.1259-120_1259-118delinsAGT
ENST00000532846.2:c.144-120_144-118delinsAGT
ENST00000617875.4:c.1259-120_1259-118delinsAGT	ENSP00000482313.1:n.1259-120_1259-118delinsAGT
ENST00000621189.4:c.188-120_188-118delinsAGT	ENSP00000483145.1:n.188-120_188-118delinsAGT
NM_004260.3:c.1259-120_1259-118delinsAGT	NP_004251.3:n.1259-120_1259-118delinsAGT
XM_011517380.1:c.1259-120_1259-118delinsAGT	XP_011515682.1:n.1259-120_1259-118delinsAGT
XM_011517381.1:c.1163-120_1163-118delinsAGT	XP_011515683.1:n.1163-120_1163-118delinsAGT
XM_011517382.1:c.1259-120_1259-118delinsAGT	XP_011515684.1:n.1259-120_1259-118delinsAGT
XM_011517383.1:c.1259-120_1259-118delinsAGT	XP_011515685.1:n.1259-120_1259-118delinsAGT
XM_011517384.1:c.1259-120_1259-118delinsAGT	XP_011515686.1:n.1259-120_1259-118delinsAGT
XM_011517385.1:c.126-124_126-122delinsAGT	XP_011515687.1:n.126-124_126-122delinsAGT
XR_928366.1:n.1300-120_1300-118delinsAGT
XR_928367.1:n.1300-120_1300-118delinsAGT
XR_928368.1:n.1302-120_1302-118delinsAGT
XM_011517384.3:c.1259-120_1259-118delinsAGT	XP_011515686.1:n.1259-120_1259-118delinsAGT
XM_017013991.2:c.1259-120_1259-118delinsAGT	XP_016869480.1:n.1259-120_1259-118delinsAGT
XM_017013992.2:c.1259-120_1259-118delinsAGT	XP_016869481.1:n.1259-120_1259-118delinsAGT
XM_017013993.2:c.1259-120_1259-118delinsAGT	XP_016869482.1:n.1259-120_1259-118delinsAGT
XM_017013994.2:c.1163-120_1163-118delinsAGT	XP_016869483.1:n.1163-120_1163-118delinsAGT
XM_017013995.2:c.1259-120_1259-118delinsAGT	XP_016869484.1:n.1259-120_1259-118delinsAGT
XM_017013996.2:c.1259-120_1259-118delinsAGT	XP_016869485.1:n.1259-120_1259-118delinsAGT
XM_017013997.2:c.1259-120_1259-118delinsAGT	XP_016869486.1:n.1259-120_1259-118delinsAGT
XM_017013998.1:c.1259-120_1259-118delinsAGT	XP_016869487.1:n.1259-120_1259-118delinsAGT
XM_017013999.2:c.1259-120_1259-118delinsAGT	XP_016869488.1:n.1259-120_1259-118delinsAGT
XM_017014000.1:c.126-124_126-122delinsAGT	XP_016869489.1:n.126-124_126-122delinsAGT
XM_017014001.2:c.126-124_126-122delinsAGT	XP_016869490.1:n.126-124_126-122delinsAGT
XR_001745626.2:n.1296-120_1296-118delinsAGT
XR_001745627.2:n.1296-120_1296-118delinsAGT
XR_001745628.2:n.1296-120_1296-118delinsAGT
XR_001745629.2:n.1296-120_1296-118delinsAGT
XR_001745630.2:n.1296-120_1296-118delinsAGT
NM_004260.4:c.1259-120_1259-118delinsAGT MANE Select	NP_004251.4:n.1259-120_1259-118delinsAGT