Canonical Allele Identifier: CA2749771548

Gene: EPAS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46350421_46350422insAAACGGTCACTGCACGCCATCCGTTCCCCGTCTTCGAAATTGACCTTGCCCGCGTCAAGAGTCGCCCAGATATGCATACCGAATAT , CM000664.2:g.46350421_46350422insAAACGGTCACTGCACGCCATCCGTTCCCCGTCTTCGAAATTGACCTTGCCCGCGTCAAGAGTCGCCCAGATATGCATACCGAATAT	GRCh38
NC_000002.11:g.46577560_46577561insAAACGGTCACTGCACGCCATCCGTTCCCCGTCTTCGAAATTGACCTTGCCCGCGTCAAGAGTCGCCCAGATATGCATACCGAATAT , CM000664.1:g.46577560_46577561insAAACGGTCACTGCACGCCATCCGTTCCCCGTCTTCGAAATTGACCTTGCCCGCGTCAAGAGTCGCCCAGATATGCATACCGAATAT	GRCh37
NC_000002.10:g.46431064_46431065insAAACGGTCACTGCACGCCATCCGTTCCCCGTCTTCGAAATTGACCTTGCCCGCGTCAAGAGTCGCCCAGATATGCATACCGAATAT	NCBI36
NG_016000.1:g.58020_58021insAAACGGTCACTGCACGCCATCCGTTCCCCGTCTTCGAAATTGACCTTGCCCGCGTCAAGAGTCGCCCAGATATGCATACCGAATAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.217+3358_217+3359insAAACGGTCACTGCACGCCATCCGTTCCCCGTCTTCGAAATTGACCTTGCCCGCGTCAAGAGTCGCCCAGATATGCATACCGAATAT MANE Select	ENSP00000263734.3:n.217+3358_217+3359insAAACGGTCACTGCACGCCATC...
ENST00000263734.4:c.217+3358_217+3359insAAACGGTCACTGCACGCCATCCGTTCCCCGTCTTCGAAATTGACCTTGCCCGCGTCAAGAGTCGCCCAGATATGCATACCGAATAT	ENSP00000263734.3:n.217+3358_217+3359insAAACGGTCACTGCACGCCATC...
ENST00000449347.5:c.217+3358_217+3359insAAACGGTCACTGCACGCCATCCGTTCCCCGTCTTCGAAATTGACCTTGCCCGCGTCAAGAGTCGCCCAGATATGCATACCGAATAT	ENSP00000406137.1:n.217+3358_217+3359insAAACGGTCACTGCACGCCATC...
ENST00000475822.1:n.408+3358_408+3359insAAACGGTCACTGCACGCCATCCGTTCCCCGTCTTCGAAATTGACCTTGCCCGCGTCAAGAGTCGCCCAGATATGCATACCGAATAT
NM_001430.4:c.217+3358_217+3359insAAACGGTCACTGCACGCCATCCGTTCCCCGTCTTCGAAATTGACCTTGCCCGCGTCAAGAGTCGCCCAGATATGCATACCGAATAT	NP_001421.2:n.217+3358_217+3359insAAACGGTCACTGCACGCCATCCGTTCC...
XM_011532698.1:c.256+3358_256+3359insAAACGGTCACTGCACGCCATCCGTTCCCCGTCTTCGAAATTGACCTTGCCCGCGTCAAGAGTCGCCCAGATATGCATACCGAATAT	XP_011531000.1:n.256+3358_256+3359insAAACGGTCACTGCACGCCATCCGT...
XM_011532698.2:c.256+3358_256+3359insAAACGGTCACTGCACGCCATCCGTTCCCCGTCTTCGAAATTGACCTTGCCCGCGTCAAGAGTCGCCCAGATATGCATACCGAATAT	XP_011531000.1:n.256+3358_256+3359insAAACGGTCACTGCACGCCATCCGT...
NM_001430.5:c.217+3358_217+3359insAAACGGTCACTGCACGCCATCCGTTCCCCGTCTTCGAAATTGACCTTGCCCGCGTCAAGAGTCGCCCAGATATGCATACCGAATAT MANE Select	NP_001421.2:n.217+3358_217+3359insAAACGGTCACTGCACGCCATCCGTTCC...