Canonical Allele Identifier: CA2586968434

Gene: EGLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231374041_231374042delinsCT , CM000663.2:g.231374041_231374042delinsCT	GRCh38
NC_000001.10:g.231509787_231509788delinsCT , CM000663.1:g.231509787_231509788delinsCT	GRCh37
NC_000001.9:g.229576410_229576411delinsCT	NCBI36
NG_015865.1:g.56003_56004delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366641.4:c.949_950delinsAG MANE Select	ENSP00000355601.3:p.Pro317Arg
ENST00000476717.2:n.226_227delinsAG
ENST00000653198.1:n.491_492delinsAG
ENST00000653908.1:c.88_89delinsAG	ENSP00000499669.1:p.Pro30Arg
ENST00000654803.1:c.171_172delinsAG
ENST00000658954.1:c.323_324delinsAG
ENST00000662216.1:c.88_89delinsAG	ENSP00000499467.1:p.Pro30Arg
ENST00000663780.1:n.49_50delinsAG
ENST00000667629.1:c.253_254delinsAG	ENSP00000499629.1:p.Pro85Arg
ENST00000670301.1:c.230-7567_230-7566delinsAG
ENST00000366641.3:c.949_950delinsAG	ENSP00000355601.3:p.Pro317Arg
ENST00000476717.1:n.226_227delinsAG
NM_022051.2:c.949_950delinsAG	NP_071334.1:p.Pro317Arg
XM_005273166.3:c.949_950delinsAG	XP_005273223.1:p.Pro317Arg
XM_005273167.3:c.949_950delinsAG	XP_005273224.1:p.Pro317Arg
XM_005273166.5:c.949_950delinsAG	XP_005273223.1:p.Pro317Arg
XM_005273167.5:c.949_950delinsAG	XP_005273224.1:p.Pro317Arg
XM_024447734.1:c.949_950delinsAG	XP_024303502.1:p.Pro317Arg
NM_001377260.1:c.949_950delinsAG	NP_001364189.1:p.Pro317Arg
NM_001377261.1:c.949_950delinsAG	NP_001364190.1:p.Pro317Arg
NM_022051.3:c.949_950delinsAG MANE Select	NP_071334.1:p.Pro317Arg