Canonical Allele Identifier: CA1826368764

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515984_144515988delinsTTACC , CM000670.2:g.144515984_144515988delinsTTACC	GRCh38
NC_000008.10:g.145741368_145741372delinsTTACC , CM000670.1:g.145741368_145741372delinsTTACC	GRCh37
NC_000008.9:g.145712176_145712180delinsTTACC	NCBI36
NG_016430.1:g.6839_6843delinsGGTAA
NG_033083.1:g.3020_3024delinsTTACC
NG_016430.2:g.6839_6843delinsGGTAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000617875.6:c.1131_1131+4delinsGGTAA
ENST00000524998.1:c.653_653+4delinsGGTAA
ENST00000532846.2:c.16_16+4delinsGGTAA
ENST00000617875.4:c.1131_1131+4delinsGGTAA
ENST00000621189.4:c.60_60+4delinsGGTAA
NM_004260.3:c.1131_1131+4delinsGGTAA
XM_011517380.1:c.1131_1131+4delinsGGTAA
XM_011517381.1:c.1035_1035+4delinsGGTAA
XM_011517382.1:c.1131_1131+4delinsGGTAA
XM_011517383.1:c.1131_1131+4delinsGGTAA
XM_011517384.1:c.1131_1131+4delinsGGTAA
XM_011517385.1:c.-3_-3+4delinsGGTAA
XR_928366.1:n.1172_1172+4delinsGGTAA
XR_928367.1:n.1172_1172+4delinsGGTAA
XR_928368.1:n.1174_1174+4delinsGGTAA
XM_011517384.3:c.1131_1131+4delinsGGTAA
XM_017013991.2:c.1131_1131+4delinsGGTAA
XM_017013992.2:c.1131_1131+4delinsGGTAA
XM_017013993.2:c.1131_1131+4delinsGGTAA
XM_017013994.2:c.1035_1035+4delinsGGTAA
XM_017013995.2:c.1131_1131+4delinsGGTAA
XM_017013996.2:c.1131_1131+4delinsGGTAA
XM_017013997.2:c.1131_1131+4delinsGGTAA
XM_017013998.1:c.1131_1131+4delinsGGTAA
XM_017013999.2:c.1131_1131+4delinsGGTAA
XM_017014000.1:c.-3_-3+4delinsGGTAA
XM_017014001.2:c.-3_-3+4delinsGGTAA
XR_001745626.2:n.1168_1168+4delinsGGTAA
XR_001745627.2:n.1168_1168+4delinsGGTAA
XR_001745628.2:n.1168_1168+4delinsGGTAA
XR_001745629.2:n.1168_1168+4delinsGGTAA
XR_001745630.2:n.1168_1168+4delinsGGTAA
NM_004260.4:c.1131_1131+4delinsGGTAA