Canonical Allele Identifier: CA2575023311

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.126345499_126345503del , CM000673.2:g.126345499_126345503del GRCh38
NC_000011.9:g.126215394_126215398del , CM000673.1:g.126215394_126215398del GRCh37
NC_000011.8:g.125720604_125720608del NCBI36
NG_053153.1:g.47199_47203del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263579.5:c.900_904del (DCPS) MANE Select ENSP00000263579.4:p.Glu300AspfsTer7
ENST00000648516.1:c.621_625del (DCPS) ENSP00000497684.1:p.Glu207AspfsTer7
ENST00000263579.4:c.900_904del (DCPS) ENSP00000263579.4:p.Glu300AspfsTer7
ENST00000529149.1:n.2250_2254del (DCPS)
ENST00000530860.5:n.411_415del (DCPS)
NM_014026.4:c.900_904del (DCPS) NP_054745.1:p.Glu300AspfsTer7
NR_033839.1:n.147-3178_147-3174del (GSEC)
XM_011542778.1:c.921_925del (DCPS) XP_011541080.1:p.Glu307AspfsTer7
XM_011542779.1:c.621_625del (DCPS) XP_011541081.1:p.Glu207AspfsTer7
XM_011542780.1:c.621_625del (DCPS) XP_011541082.1:p.Glu207AspfsTer7
NM_001350236.1:c.921_925del (DCPS) NP_001337165.1:p.Glu307AspfsTer7
NM_014026.5:c.900_904del (DCPS) NP_054745.1:p.Glu300AspfsTer7
NM_014026.6:c.900_904del (DCPS) MANE Select NP_054745.1:p.Glu300AspfsTer7
NM_001350236.2:c.921_925del (DCPS) NP_001337165.1:p.Glu307AspfsTer7