Canonical Allele Identifier: CA2495266996
Gene: EPAS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46350660_46350665delinsAGGGTC , CM000664.2:g.46350660_46350665delinsAGGGTC GRCh38
NC_000002.11:g.46577799_46577804delinsAGGGTC , CM000664.1:g.46577799_46577804delinsAGGGTC GRCh37
NC_000002.10:g.46431303_46431308delinsAGGGTC NCBI36
NG_016000.1:g.58259_58264delinsAGGGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000263734.5:c.217+3597_217+3602delinsAGGGTC MANE Select ENSP00000263734.3:n.217+3597_217+3602delinsAGGGTC
ENST00000263734.4:c.217+3597_217+3602delinsAGGGTC ENSP00000263734.3:n.217+3597_217+3602delinsAGGGTC
ENST00000449347.5:c.217+3597_217+3602delinsAGGGTC ENSP00000406137.1:n.217+3597_217+3602delinsAGGGTC
ENST00000475822.1:n.408+3597_408+3602delinsAGGGTC
NM_001430.4:c.217+3597_217+3602delinsAGGGTC NP_001421.2:n.217+3597_217+3602delinsAGGGTC
XM_011532698.1:c.256+3597_256+3602delinsAGGGTC XP_011531000.1:n.256+3597_256+3602delinsAGGGTC
XM_011532698.2:c.256+3597_256+3602delinsAGGGTC XP_011531000.1:n.256+3597_256+3602delinsAGGGTC
NM_001430.5:c.217+3597_217+3602delinsAGGGTC MANE Select NP_001421.2:n.217+3597_217+3602delinsAGGGTC
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