Canonical Allele Identifier: CA2616730164

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.126345530_126345531insG , CM000673.2:g.126345530_126345531insG GRCh38
NC_000011.9:g.126215425_126215426insG , CM000673.1:g.126215425_126215426insG GRCh37
NC_000011.8:g.125720635_125720636insG NCBI36
NG_053153.1:g.47230_47231insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000263579.5:c.931_932insG (DCPS) MANE Select ENSP00000263579.4:p.His311ArgfsTer14
ENST00000648516.1:c.652_653insG (DCPS) ENSP00000497684.1:p.His218ArgfsTer14
ENST00000263579.4:c.931_932insG (DCPS) ENSP00000263579.4:p.His311ArgfsTer14
ENST00000529149.1:n.2281_2282insG (DCPS)
ENST00000530860.5:n.442_443insG (DCPS)
NM_014026.4:c.931_932insG (DCPS) NP_054745.1:p.His311ArgfsTer14
NR_033839.1:n.147-3209_147-3208insC (GSEC)
XM_011542778.1:c.952_953insG (DCPS) XP_011541080.1:p.His318ArgfsTer14
XM_011542779.1:c.652_653insG (DCPS) XP_011541081.1:p.His218ArgfsTer14
XM_011542780.1:c.652_653insG (DCPS) XP_011541082.1:p.His218ArgfsTer14
NM_001350236.1:c.952_953insG (DCPS) NP_001337165.1:p.His318ArgfsTer14
NM_014026.5:c.931_932insG (DCPS) NP_054745.1:p.His311ArgfsTer14
NM_014026.6:c.931_932insG (DCPS) MANE Select NP_054745.1:p.His311ArgfsTer14
NM_001350236.2:c.952_953insG (DCPS) NP_001337165.1:p.His318ArgfsTer14