Canonical Allele Identifier: CA2616730157

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.126345505dup , CM000673.2:g.126345505dup GRCh38
NC_000011.9:g.126215400dup , CM000673.1:g.126215400dup GRCh37
NC_000011.8:g.125720610dup NCBI36
NG_053153.1:g.47205dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000263579.5:c.906dup (DCPS) MANE Select ENSP00000263579.4:p.Glu303ArgfsTer6
ENST00000648516.1:c.627dup (DCPS) ENSP00000497684.1:p.Glu210ArgfsTer6
ENST00000263579.4:c.906dup (DCPS) ENSP00000263579.4:p.Glu303ArgfsTer6
ENST00000529149.1:n.2256dup (DCPS)
ENST00000530860.5:n.417dup (DCPS)
NM_014026.4:c.906dup (DCPS) NP_054745.1:p.Glu303ArgfsTer6
NR_033839.1:n.147-3183dup (GSEC)
XM_011542778.1:c.927dup (DCPS) XP_011541080.1:p.Glu310ArgfsTer6
XM_011542779.1:c.627dup (DCPS) XP_011541081.1:p.Glu210ArgfsTer6
XM_011542780.1:c.627dup (DCPS) XP_011541082.1:p.Glu210ArgfsTer6
NM_001350236.1:c.927dup (DCPS) NP_001337165.1:p.Glu310ArgfsTer6
NM_014026.5:c.906dup (DCPS) NP_054745.1:p.Glu303ArgfsTer6
NM_014026.6:c.906dup (DCPS) MANE Select NP_054745.1:p.Glu303ArgfsTer6
NM_001350236.2:c.927dup (DCPS) NP_001337165.1:p.Glu310ArgfsTer6