Canonical Allele Identifier: CA2495267005
Gene: EPAS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46350667_46350668delinsAC , CM000664.2:g.46350667_46350668delinsAC GRCh38
NC_000002.11:g.46577806_46577807delinsAC , CM000664.1:g.46577806_46577807delinsAC GRCh37
NC_000002.10:g.46431310_46431311delinsAC NCBI36
NG_016000.1:g.58266_58267delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000263734.5:c.217+3604_217+3605delinsAC MANE Select ENSP00000263734.3:n.217+3604_217+3605delinsAC
ENST00000263734.4:c.217+3604_217+3605delinsAC ENSP00000263734.3:n.217+3604_217+3605delinsAC
ENST00000449347.5:c.217+3604_217+3605delinsAC ENSP00000406137.1:n.217+3604_217+3605delinsAC
ENST00000475822.1:n.408+3604_408+3605delinsAC
NM_001430.4:c.217+3604_217+3605delinsAC NP_001421.2:n.217+3604_217+3605delinsAC
XM_011532698.1:c.256+3604_256+3605delinsAC XP_011531000.1:n.256+3604_256+3605delinsAC
XM_011532698.2:c.256+3604_256+3605delinsAC XP_011531000.1:n.256+3604_256+3605delinsAC
NM_001430.5:c.217+3604_217+3605delinsAC MANE Select NP_001421.2:n.217+3604_217+3605delinsAC
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