Canonical Allele Identifier: CA46534638
Gene: EPAS1 HGNC NCBI

Linked Data

dbSNP Id: rs972582306

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46350366del , CM000664.2:g.46350366del GRCh38
NC_000002.11:g.46577505del , CM000664.1:g.46577505del GRCh37
NC_000002.10:g.46431009del NCBI36
NG_016000.1:g.57965del

Transcript Alleles

HGVS Amino-acid change
ENST00000263734.5:c.217+3303del MANE Select ENSP00000263734.3:n.217+3303del
ENST00000263734.4:c.217+3303del ENSP00000263734.3:n.217+3303del
ENST00000449347.5:c.217+3303del ENSP00000406137.1:n.217+3303del
ENST00000475822.1:n.408+3303del
NM_001430.4:c.217+3303del NP_001421.2:n.217+3303del
XM_011532698.1:c.256+3303del XP_011531000.1:n.256+3303del
XM_011532698.2:c.256+3303del XP_011531000.1:n.256+3303del
NM_001430.5:c.217+3303del MANE Select NP_001421.2:n.217+3303del