Canonical Allele Identifier: CA1030176510
Gene: EPAS1 HGNC NCBI

Linked Data

dbSNP Id: rs1684124443

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46350414del , CM000664.2:g.46350414del GRCh38
NC_000002.11:g.46577553del , CM000664.1:g.46577553del GRCh37
NC_000002.10:g.46431057del NCBI36
NG_016000.1:g.58013del

Transcript Alleles

HGVS Amino-acid change
ENST00000263734.5:c.217+3351del MANE Select ENSP00000263734.3:n.217+3351del
ENST00000263734.4:c.217+3351del ENSP00000263734.3:n.217+3351del
ENST00000449347.5:c.217+3351del ENSP00000406137.1:n.217+3351del
ENST00000475822.1:n.408+3351del
NM_001430.4:c.217+3351del NP_001421.2:n.217+3351del
XM_011532698.1:c.256+3351del XP_011531000.1:n.256+3351del
XM_011532698.2:c.256+3351del XP_011531000.1:n.256+3351del
NM_001430.5:c.217+3351del MANE Select NP_001421.2:n.217+3351del