Canonical Allele Identifier: CA1826368834
Gene: RECQL4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144516069_144516071delinsCCT , CM000670.2:g.144516069_144516071delinsCCT GRCh38
NC_000008.10:g.145741453_145741455delinsCCT , CM000670.1:g.145741453_145741455delinsCCT GRCh37
NC_000008.9:g.145712261_145712263delinsCCT NCBI36
NG_016430.1:g.6756_6758delinsAGG
NG_033083.1:g.3105_3107delinsCCT
NG_016430.2:g.6756_6758delinsAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000617875.6:c.1048_1050delinsAGG MANE Select ENSP00000482313.2:p.Arg350=
ENST00000524998.1:c.570_572delinsAGG
ENST00000617875.4:c.1048_1050delinsAGG ENSP00000482313.1:p.Arg350=
ENST00000621189.4:c.-24_-22delinsAGG ENSP00000483145.1:n.-24_-22delinsAGG
NM_004260.3:c.1048_1050delinsAGG NP_004251.3:p.Arg350=
XM_011517380.1:c.1048_1050delinsAGG XP_011515682.1:p.Arg350=
XM_011517381.1:c.954-2_954delinsAGG
XM_011517382.1:c.1048_1050delinsAGG XP_011515684.1:p.Arg350=
XM_011517383.1:c.1048_1050delinsAGG XP_011515685.1:p.Arg350=
XM_011517384.1:c.1048_1050delinsAGG XP_011515686.1:p.Arg350=
XM_011517385.1:c.-86_-84delinsAGG XP_011515687.1:n.-86_-84delinsAGG
XR_928366.1:n.1089_1091delinsAGG
XR_928367.1:n.1089_1091delinsAGG
XR_928368.1:n.1091_1093delinsAGG
XM_011517384.3:c.1048_1050delinsAGG XP_011515686.1:p.Arg350=
XM_017013991.2:c.1048_1050delinsAGG XP_016869480.1:p.Arg350=
XM_017013992.2:c.1048_1050delinsAGG XP_016869481.1:p.Arg350=
XM_017013993.2:c.1048_1050delinsAGG XP_016869482.1:p.Arg350=
XM_017013994.2:c.954-2_954delinsAGG
XM_017013995.2:c.1048_1050delinsAGG XP_016869484.1:p.Arg350=
XM_017013996.2:c.1048_1050delinsAGG XP_016869485.1:p.Arg350=
XM_017013997.2:c.1048_1050delinsAGG XP_016869486.1:p.Arg350=
XM_017013998.1:c.1048_1050delinsAGG XP_016869487.1:p.Arg350=
XM_017013999.2:c.1048_1050delinsAGG XP_016869488.1:p.Arg350=
XM_017014000.1:c.-86_-84delinsAGG XP_016869489.1:n.-86_-84delinsAGG
XM_017014001.2:c.-86_-84delinsAGG XP_016869490.1:n.-86_-84delinsAGG
XR_001745626.2:n.1085_1087delinsAGG
XR_001745627.2:n.1085_1087delinsAGG
XR_001745628.2:n.1085_1087delinsAGG
XR_001745629.2:n.1085_1087delinsAGG
XR_001745630.2:n.1085_1087delinsAGG
NM_004260.4:c.1048_1050delinsAGG MANE Select NP_004251.4:p.Arg350=