Canonical Allele Identifier: CA2651006885

Gene: EGLN1 SPRTN

Linked Data

• gnomAD v4: 1-231370522-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231370524del , CM000663.2:g.231370524del	GRCh38
NC_000001.10:g.231506270del , CM000663.1:g.231506270del	GRCh37
NC_000001.9:g.229572893del	NCBI36
NG_015865.1:g.59522del

Transcript Alleles

HGVS	Amino-acid change
ENST00000366641.4:c.1148+39del (EGLN1) MANE Select	ENSP00000355601.3:n.1148+39del
ENST00000476717.2:n.425+39del (EGLN1)
ENST00000653198.1:n.690+39del
ENST00000653908.1:c.151-2887del	ENSP00000499669.1:n.151-2887del
ENST00000654803.1:c.370+39del (EGLN1)
ENST00000658954.1:c.522+39del (EGLN1)
ENST00000662216.1:c.287+39del	ENSP00000499467.1:n.287+39del
ENST00000663780.1:n.287del (EGLN1)
ENST00000667629.1:c.316-2887del (EGLN1)	ENSP00000499629.1:n.316-2887del
ENST00000670301.1:c.230-4048del (EGLN1)
ENST00000366641.3:c.1148+39del (EGLN1)	ENSP00000355601.3:n.1148+39del
ENST00000476717.1:n.425+39del (EGLN1)
NM_022051.2:c.1148+39del (EGLN1)	NP_071334.1:n.1148+39del
XM_005273166.3:c.1148+39del (EGLN1)	XP_005273223.1:n.1148+39del
XM_005273167.3:c.1012-2887del (EGLN1)	XP_005273224.1:n.1012-2887del
XM_005273284.2:c.*918del (SPRTN)	XP_005273341.1:n.*918del
XM_005273285.2:c.*918del (SPRTN)	XP_005273342.1:n.*918del
XM_005273166.5:c.1148+39del (EGLN1)	XP_005273223.1:n.1148+39del
XM_005273167.5:c.1012-2887del (EGLN1)	XP_005273224.1:n.1012-2887del
XM_024447734.1:c.1012-2887del (EGLN1)	XP_024303502.1:n.1012-2887del
NM_001377260.1:c.1148+39del (EGLN1)	NP_001364189.1:n.1148+39del
NM_001377261.1:c.1012-2887del (EGLN1)	NP_001364190.1:n.1012-2887del
NM_022051.3:c.1148+39del (EGLN1) MANE Select	NP_071334.1:n.1148+39del