Canonical Allele Identifier: CA2495256709

Gene: EPAS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46329108_46329109delinsGT , CM000664.2:g.46329108_46329109delinsGT	GRCh38
NC_000002.11:g.46556247_46556248delinsGT , CM000664.1:g.46556247_46556248delinsGT	GRCh37
NC_000002.10:g.46409751_46409752delinsGT	NCBI36
NG_016000.1:g.36707_36708delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000263734.5:c.27-17765_27-17764delinsGT MANE Select	ENSP00000263734.3:n.27-17765_27-17764delinsGT
ENST00000263734.4:c.27-17765_27-17764delinsGT	ENSP00000263734.3:n.27-17765_27-17764delinsGT
ENST00000449347.5:c.27-17765_27-17764delinsGT	ENSP00000406137.1:n.27-17765_27-17764delinsGT
ENST00000460015.1:n.433-17765_433-17764delinsGT
ENST00000467888.5:n.175-17765_175-17764delinsGT
NM_001430.4:c.27-17765_27-17764delinsGT	NP_001421.2:n.27-17765_27-17764delinsGT
XM_011532698.1:c.65+3232_65+3233delinsGT	XP_011531000.1:n.65+3232_65+3233delinsGT
XR_940055.1:n.2355+6675_2355+6676delinsAC
XM_011532698.2:c.65+3232_65+3233delinsGT	XP_011531000.1:n.65+3232_65+3233delinsGT
NM_001430.5:c.27-17765_27-17764delinsGT MANE Select	NP_001421.2:n.27-17765_27-17764delinsGT