Canonical Allele Identifier: CA4948885
Gene: RECQL4 HGNC NCBI

Linked Data

dbSNP Id: rs765245354

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144515289del , CM000670.2:g.144515289del GRCh38
NC_000008.10:g.145740673del , CM000670.1:g.145740673del GRCh37
NC_000008.9:g.145711481del NCBI36
NG_016430.1:g.7541del
NG_033083.1:g.2325del
NG_016430.2:g.7541del

Transcript Alleles

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