Canonical Allele Identifier: CA2495266918

Gene: EPAS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46350494_46350497delinsGATT , CM000664.2:g.46350494_46350497delinsGATT	GRCh38
NC_000002.11:g.46577633_46577636delinsGATT , CM000664.1:g.46577633_46577636delinsGATT	GRCh37
NC_000002.10:g.46431137_46431140delinsGATT	NCBI36
NG_016000.1:g.58093_58096delinsGATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.217+3431_217+3434delinsGATT MANE Select	ENSP00000263734.3:n.217+3431_217+3434delinsGATT
ENST00000263734.4:c.217+3431_217+3434delinsGATT	ENSP00000263734.3:n.217+3431_217+3434delinsGATT
ENST00000449347.5:c.217+3431_217+3434delinsGATT	ENSP00000406137.1:n.217+3431_217+3434delinsGATT
ENST00000475822.1:n.408+3431_408+3434delinsGATT
NM_001430.4:c.217+3431_217+3434delinsGATT	NP_001421.2:n.217+3431_217+3434delinsGATT
XM_011532698.1:c.256+3431_256+3434delinsGATT	XP_011531000.1:n.256+3431_256+3434delinsGATT
XM_011532698.2:c.256+3431_256+3434delinsGATT	XP_011531000.1:n.256+3431_256+3434delinsGATT
NM_001430.5:c.217+3431_217+3434delinsGATT MANE Select	NP_001421.2:n.217+3431_217+3434delinsGATT