Canonical Allele Identifier: CA16612268
Gene: RECQL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 406879
dbSNP Id: rs1060501353

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144515986_144515989del , CM000670.2:g.144515986_144515989del GRCh38
NC_000008.10:g.145741370_145741373del , CM000670.1:g.145741370_145741373del GRCh37
NC_000008.9:g.145712178_145712181del NCBI36
NG_016430.1:g.6839_6842del
NG_033083.1:g.3022_3025del
NG_016430.2:g.6839_6842del

Transcript Alleles

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