Canonical Allele Identifier: CA529723765

Gene: EGLN1 SPRTN

Linked Data

• dbSNP Id: rs1464427438
• gnomAD v2: 1-231506264-T-TCCTA
• gnomAD v4: 1-231370518-T-TCCTA
• MyVariant Identifiers: chr1:g.231506264_231506265insCCTA (hg19) ; chr1:g.231370518_231370519insCCTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231370521_231370524dup , CM000663.2:g.231370521_231370524dup	GRCh38
NC_000001.10:g.231506267_231506270dup , CM000663.1:g.231506267_231506270dup	GRCh37
NC_000001.9:g.229572890_229572893dup	NCBI36
NG_015865.1:g.59523_59526dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366641.4:c.1148+40_1148+43dup (EGLN1) MANE Select	ENSP00000355601.3:n.1148+40_1148+43dup
ENST00000476717.2:n.425+40_425+43dup (EGLN1)
ENST00000653198.1:n.690+40_690+43dup
ENST00000653908.1:c.151-2886_151-2883dup	ENSP00000499669.1:n.151-2886_151-2883dup
ENST00000654803.1:c.370+40_370+43dup (EGLN1)
ENST00000658954.1:c.522+40_522+43dup (EGLN1)
ENST00000662216.1:c.287+40_287+43dup	ENSP00000499467.1:n.287+40_287+43dup
ENST00000663780.1:n.288_291dup (EGLN1)
ENST00000667629.1:c.316-2886_316-2883dup (EGLN1)	ENSP00000499629.1:n.316-2886_316-2883dup
ENST00000670301.1:c.230-4047_230-4044dup (EGLN1)
ENST00000366641.3:c.1148+40_1148+43dup (EGLN1)	ENSP00000355601.3:n.1148+40_1148+43dup
ENST00000476717.1:n.425+40_425+43dup (EGLN1)
NM_022051.2:c.1148+40_1148+43dup (EGLN1)	NP_071334.1:n.1148+40_1148+43dup
XM_005273166.3:c.1148+40_1148+43dup (EGLN1)	XP_005273223.1:n.1148+40_1148+43dup
XM_005273167.3:c.1012-2886_1012-2883dup (EGLN1)	XP_005273224.1:n.1012-2886_1012-2883dup
XM_005273284.2:c.*915_*918dup (SPRTN)	XP_005273341.1:n.*915_*918dup
XM_005273285.2:c.*915_*918dup (SPRTN)	XP_005273342.1:n.*915_*918dup
XM_005273166.5:c.1148+40_1148+43dup (EGLN1)	XP_005273223.1:n.1148+40_1148+43dup
XM_005273167.5:c.1012-2886_1012-2883dup (EGLN1)	XP_005273224.1:n.1012-2886_1012-2883dup
XM_024447734.1:c.1012-2886_1012-2883dup (EGLN1)	XP_024303502.1:n.1012-2886_1012-2883dup
NM_001377260.1:c.1148+40_1148+43dup (EGLN1)	NP_001364189.1:n.1148+40_1148+43dup
NM_001377261.1:c.1012-2886_1012-2883dup (EGLN1)	NP_001364190.1:n.1012-2886_1012-2883dup
NM_022051.3:c.1148+40_1148+43dup (EGLN1) MANE Select	NP_071334.1:n.1148+40_1148+43dup