Canonical Allele Identifier: CA1826368210

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515285_144515286delinsAC , CM000670.2:g.144515285_144515286delinsAC	GRCh38
NC_000008.10:g.145740669_145740670delinsAC , CM000670.1:g.145740669_145740670delinsAC	GRCh37
NC_000008.9:g.145711477_145711478delinsAC	NCBI36
NG_016430.1:g.7541_7542delinsGT
NG_033083.1:g.2321_2322delinsAC
NG_016430.2:g.7541_7542delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000688394.1:n.413+40_413+41delinsGT
ENST00000617875.6:c.1390+40_1390+41delinsGT MANE Select	ENSP00000482313.2:n.1390+40_1390+41delins...
ENST00000532846.2:c.275+40_275+41delinsGT
ENST00000617875.4:c.1390+40_1390+41delinsGT	ENSP00000482313.1:n.1390+40_1390+41delins...
ENST00000621189.4:c.319+40_319+41delinsGT	ENSP00000483145.1:n.319+40_319+41delinsGT...
NM_004260.3:c.1390+40_1390+41delinsGT	NP_004251.3:n.1390+40_1390+41delinsGT
XM_011517380.1:c.1390+40_1390+41delinsGT	XP_011515682.1:n.1390+40_1390+41delinsGT
XM_011517381.1:c.1294+40_1294+41delinsGT	XP_011515683.1:n.1294+40_1294+41delinsGT
XM_011517382.1:c.1390+40_1390+41delinsGT	XP_011515684.1:n.1390+40_1390+41delinsGT
XM_011517383.1:c.1390+40_1390+41delinsGT	XP_011515685.1:n.1390+40_1390+41delinsGT
XM_011517384.1:c.1390+40_1390+41delinsGT	XP_011515686.1:n.1390+40_1390+41delinsGT
XM_011517385.1:c.253+40_253+41delinsGT	XP_011515687.1:n.253+40_253+41delinsGT
XR_928366.1:n.1431+40_1431+41delinsGT
XR_928367.1:n.1431+40_1431+41delinsGT
XR_928368.1:n.1433+40_1433+41delinsGT
XM_011517384.3:c.1390+40_1390+41delinsGT	XP_011515686.1:n.1390+40_1390+41delinsGT
XM_017013991.2:c.1390+40_1390+41delinsGT	XP_016869480.1:n.1390+40_1390+41delinsGT
XM_017013992.2:c.1390+40_1390+41delinsGT	XP_016869481.1:n.1390+40_1390+41delinsGT
XM_017013993.2:c.1390+40_1390+41delinsGT	XP_016869482.1:n.1390+40_1390+41delinsGT
XM_017013994.2:c.1294+40_1294+41delinsGT	XP_016869483.1:n.1294+40_1294+41delinsGT
XM_017013995.2:c.1390+40_1390+41delinsGT	XP_016869484.1:n.1390+40_1390+41delinsGT
XM_017013996.2:c.1390+40_1390+41delinsGT	XP_016869485.1:n.1390+40_1390+41delinsGT
XM_017013997.2:c.1390+40_1390+41delinsGT	XP_016869486.1:n.1390+40_1390+41delinsGT
XM_017013998.1:c.1390+40_1390+41delinsGT	XP_016869487.1:n.1390+40_1390+41delinsGT
XM_017013999.2:c.1390+40_1390+41delinsGT	XP_016869488.1:n.1390+40_1390+41delinsGT
XM_017014000.1:c.253+40_253+41delinsGT	XP_016869489.1:n.253+40_253+41delinsGT
XM_017014001.2:c.253+40_253+41delinsGT	XP_016869490.1:n.253+40_253+41delinsGT
XR_001745626.2:n.1427+40_1427+41delinsGT
XR_001745627.2:n.1427+40_1427+41delinsGT
XR_001745628.2:n.1427+40_1427+41delinsGT
XR_001745629.2:n.1427+40_1427+41delinsGT
XR_001745630.2:n.1427+40_1427+41delinsGT
NM_004260.4:c.1390+40_1390+41delinsGT MANE Select	NP_004251.4:n.1390+40_1390+41delinsGT