Canonical Allele Identifier: CA2495245887
Gene: EPAS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46306269_46306270delinsTG , CM000664.2:g.46306269_46306270delinsTG GRCh38
NC_000002.11:g.46533408_46533409delinsTG , CM000664.1:g.46533408_46533409delinsTG GRCh37
NC_000002.10:g.46386912_46386913delinsTG NCBI36
NG_016000.1:g.13868_13869delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000263734.5:c.26+8332_26+8333delinsTG MANE Select ENSP00000263734.3:n.26+8332_26+8333delinsTG
ENST00000263734.4:c.26+8332_26+8333delinsTG ENSP00000263734.3:n.26+8332_26+8333delinsTG
ENST00000449347.5:c.26+8332_26+8333delinsTG ENSP00000406137.1:n.26+8332_26+8333delinsTG
ENST00000460015.1:n.432+12171_432+12172delinsTG
ENST00000467888.5:n.174+8332_174+8333delinsTG
NM_001430.4:c.26+8332_26+8333delinsTG NP_001421.2:n.26+8332_26+8333delinsTG
XR_940055.1:n.2501+7823_2501+7824delinsCA
NM_001430.5:c.26+8332_26+8333delinsTG MANE Select NP_001421.2:n.26+8332_26+8333delinsTG
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