Canonical Allele Identifier: CA658822665
Community Standard Title: NM_004260.4(RECQL4):c.3293_3294insGCAGGATGAGGAGCGCAGCA (p.Arg1099GlnfsTer?)
Gene: RECQL4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144512010_144512011insTGCTGCGCTCCTCATCCTGC , CM000670.2:g.144512010_144512011insTGCTGCGCTCCTCATCCTGC GRCh38
NC_000008.10:g.145737393_145737394insTGCTGCGCTCCTCATCCTGC , CM000670.1:g.145737393_145737394insTGCTGCGCTCCTCATCCTGC GRCh37
NC_000008.9:g.145708201_145708202insTGCTGCGCTCCTCATCCTGC NCBI36
NG_016430.1:g.10816_10817insGCAGGATGAGGAGCGCAGCA
NG_016430.2:g.10816_10817insGCAGGATGAGGAGCGCAGCA

Transcript Alleles

HGVS Amino-acid Change
NM_004260.4:c.3293_3294insGCAGGATGAGGAGCGCAGCA MANE Select NP_004251.4:p.Arg1099GlnfsTer?
ENST00000617875.6:c.3293_3294insGCAGGATGAGGAGCGCAGCA MANE Select ENSP00000482313.2:p.Arg1099GlnfsTer?
NM_004260.3:c.3293_3294insGCAGGATGAGGAGCGCAGCA NP_004251.3:p.Arg1099GlnfsTer?
ENST00000301323.7:c.310_311insGCAGGATGAGGAGCGCAGCA
ENST00000529424.2:n.50-222_50-221insGCAGGATGAGGAGCGCAGCA
ENST00000531875.2:c.539_540insGCAGGATGAGGAGCGCAGCA ENSP00000477910.1:p.Arg181GlnfsTer?
ENST00000617875.4:c.3293_3294insGCAGGATGAGGAGCGCAGCA ENSP00000482313.1:p.Arg1099GlnfsTer?
ENST00000621189.4:c.2222_2223insGCAGGATGAGGAGCGCAGCA ENSP00000483145.1:p.Arg742GlnfsTer?
XM_011517380.1:c.3368_3369insGCAGGATGAGGAGCGCAGCA XP_011515682.1:p.Arg1124GlnfsTer?
XM_011517381.1:c.3272_3273insGCAGGATGAGGAGCGCAGCA XP_011515683.1:p.Arg1092GlnfsTer?
XM_011517382.1:c.3176_3177insGCAGGATGAGGAGCGCAGCA XP_011515684.1:p.Arg1060GlnfsTer?
XM_011517383.1:c.3170_3171insGCAGGATGAGGAGCGCAGCA XP_011515685.1:p.Arg1058GlnfsTer?
XM_011517384.1:c.3095_3096insGCAGGATGAGGAGCGCAGCA XP_011515686.1:p.Arg1033GlnfsTer?
XM_011517384.3:c.3095_3096insGCAGGATGAGGAGCGCAGCA XP_011515686.1:p.Arg1033GlnfsTer?
XM_011517385.1:c.2231_2232insGCAGGATGAGGAGCGCAGCA XP_011515687.1:p.Arg745GlnfsTer?
XM_017013991.2:c.3458_3459insGCAGGATGAGGAGCGCAGCA XP_016869480.1:p.Arg1154GlnfsTer?
XM_017013992.2:c.3383_3384insGCAGGATGAGGAGCGCAGCA XP_016869481.1:p.Arg1129GlnfsTer?
XM_017013993.2:c.3368_3369insGCAGGATGAGGAGCGCAGCA XP_016869482.1:p.Arg1124GlnfsTer?
XM_017013994.2:c.3362_3363insGCAGGATGAGGAGCGCAGCA XP_016869483.1:p.Arg1122GlnfsTer?
XM_017013995.2:c.3293_3294insGCAGGATGAGGAGCGCAGCA XP_016869484.1:p.Arg1099GlnfsTer?
XM_017013996.2:c.3458_3459insGCAGGATGAGGAGCGCAGCA XP_016869485.1:p.Arg1154GlnfsTer?
XM_017013997.2:c.3260_3261insGCAGGATGAGGAGCGCAGCA XP_016869486.1:p.Arg1088GlnfsTer?
XM_017013998.1:c.3383_3384insGCAGGATGAGGAGCGCAGCA XP_016869487.1:p.Arg1129GlnfsTer?
XM_017013999.2:c.3170_3171insGCAGGATGAGGAGCGCAGCA XP_016869488.1:p.Arg1058GlnfsTer?
XM_017014000.1:c.2321_2322insGCAGGATGAGGAGCGCAGCA XP_016869489.1:p.Arg775GlnfsTer?
XM_017014001.2:c.2231_2232insGCAGGATGAGGAGCGCAGCA XP_016869490.1:p.Arg745GlnfsTer?
XR_001745626.2:n.3438+133_3438+134insGCAGGATGAGGAGCGCAGCA
XR_001745627.2:n.3434_3435insGCAGGATGAGGAGCGCAGCA
XR_001745628.2:n.3325_3326insGCAGGATGAGGAGCGCAGCA
XR_001745629.2:n.3188_3189insGCAGGATGAGGAGCGCAGCA
XR_001745630.2:n.2990_2991insGCAGGATGAGGAGCGCAGCA
XR_928366.1:n.3352+133_3352+134insGCAGGATGAGGAGCGCAGCA
XR_928367.1:n.3348_3349insGCAGGATGAGGAGCGCAGCA
XR_928368.1:n.3241_3242insGCAGGATGAGGAGCGCAGCA