Canonical Allele Identifier: CA2499214839
Gene: ESPN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6451852_6451853del , CM000663.2:g.6451852_6451853del GRCh38
NC_000001.10:g.6511912_6511913del , CM000663.1:g.6511912_6511913del GRCh37
NC_000001.9:g.6434499_6434500del NCBI36
NG_015866.1:g.32065_32066del

Transcript Alleles

HGVS Amino-acid Change
ENST00000434576.2:c.111_112del
ENST00000461727.6:c.383_384del ENSP00000465308.1:p.Ser128CysfsTer?
ENST00000475228.6:c.149_150del ENSP00000488721.2:p.Ser50CysfsTer?
ENST00000477679.2:c.136_137del
ENST00000636330.1:c.2081_2082del ENSP00000490186.1:p.Ser694CysfsTer?
ENST00000636644.1:c.206_207del ENSP00000490230.1:p.Ser69CysfsTer?
ENST00000645284.1:c.2081_2082del MANE Select ENSP00000496593.1:p.Ser694CysfsTer?
ENST00000377828.5:c.2081_2082del ENSP00000367059.1:p.Ser694CysfsTer?
ENST00000416731.5:c.383_384del ENSP00000399239.2:p.Ser128CysfsTer?
ENST00000434576.1:c.111_112del
ENST00000461727.5:c.383_384del ENSP00000465308.1:p.Ser128CysfsTer?
ENST00000475228.5:c.146_147del ENSP00000488721.1:p.Ser49CysfsTer?
ENST00000475479.2:n.263_264del
ENST00000477679.1:n.136_137del
ENST00000633239.1:c.230_231del ENSP00000488071.1:p.Ser77CysfsTer?
NM_031475.2:c.2081_2082del NP_113663.2:p.Ser694CysfsTer?
XM_005263501.2:c.2018_2019del XP_005263558.1:p.Ser673CysfsTer?
XM_011542231.1:c.2018_2019del XP_011540533.1:p.Ser673CysfsTer?
XM_011542232.1:c.1991_1992del XP_011540534.1:p.Ser664CysfsTer?
XM_011542233.1:c.1622_1623del XP_011540535.1:p.Ser541CysfsTer?
XM_011542234.1:c.959_960del XP_011540536.1:p.Ser320CysfsTer?
XM_011542235.1:c.1991_1992del XP_011540537.1:p.Ser664CysfsTer?
XM_011542236.1:c.206_207del XP_011540538.1:p.Ser69CysfsTer?
NM_031475.3:c.2081_2082del MANE Select NP_113663.2:p.Ser694CysfsTer?
XM_011542233.2:c.1622_1623del XP_011540535.1:p.Ser541CysfsTer?
XM_011542236.2:c.206_207del XP_011540538.1:p.Ser69CysfsTer?
XM_017002433.1:c.2018_2019del XP_016857922.1:p.Ser673CysfsTer?
XM_024450116.1:c.1991_1992del XP_024305884.1:p.Ser664CysfsTer?
NM_001367473.1:c.1991_1992del NP_001354402.1:p.Ser664CysfsTer?
NM_001367474.1:c.2018_2019del NP_001354403.1:p.Ser673CysfsTer?