Canonical Allele Identifier: CA2616730161

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.126345518_126345519insTTTA , CM000673.2:g.126345518_126345519insTTTA GRCh38
NC_000011.9:g.126215413_126215414insTTTA , CM000673.1:g.126215413_126215414insTTTA GRCh37
NC_000011.8:g.125720623_125720624insTTTA NCBI36
NG_053153.1:g.47218_47219insTTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000263579.5:c.919_920insTTTA (DCPS) MANE Select ENSP00000263579.4:p.Cys307PhefsTer2
ENST00000648516.1:c.640_641insTTTA (DCPS) ENSP00000497684.1:p.Cys214PhefsTer2
ENST00000263579.4:c.919_920insTTTA (DCPS) ENSP00000263579.4:p.Cys307PhefsTer2
ENST00000529149.1:n.2269_2270insTTTA (DCPS)
ENST00000530860.5:n.430_431insTTTA (DCPS)
NM_014026.4:c.919_920insTTTA (DCPS) NP_054745.1:p.Cys307PhefsTer2
NR_033839.1:n.147-3197_147-3196insTAAA (GSEC)
XM_011542778.1:c.940_941insTTTA (DCPS) XP_011541080.1:p.Cys314PhefsTer2
XM_011542779.1:c.640_641insTTTA (DCPS) XP_011541081.1:p.Cys214PhefsTer2
XM_011542780.1:c.640_641insTTTA (DCPS) XP_011541082.1:p.Cys214PhefsTer2
NM_001350236.1:c.940_941insTTTA (DCPS) NP_001337165.1:p.Cys314PhefsTer2
NM_014026.5:c.919_920insTTTA (DCPS) NP_054745.1:p.Cys307PhefsTer2
NM_014026.6:c.919_920insTTTA (DCPS) MANE Select NP_054745.1:p.Cys307PhefsTer2
NM_001350236.2:c.940_941insTTTA (DCPS) NP_001337165.1:p.Cys314PhefsTer2