Canonical Allele Identifier: CA1226942666

Gene: EGLN1

Linked Data

• dbSNP Id: rs1687794730

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231370560_231370561dup , CM000663.2:g.231370560_231370561dup	GRCh38
NC_000001.10:g.231506306_231506307dup , CM000663.1:g.231506306_231506307dup	GRCh37
NC_000001.9:g.229572929_229572930dup	NCBI36
NG_015865.1:g.59484_59485dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366641.4:c.1148+1_1148+2dup MANE Select	ENSP00000355601.3:n.1148+1_1148+2dup
ENST00000476717.2:n.425+1_425+2dup
ENST00000653198.1:n.690+1_690+2dup
ENST00000653908.1:c.151-2925_151-2924dup	ENSP00000499669.1:n.151-2925_151-2924dup
ENST00000654803.1:c.370+1_370+2dup
ENST00000658954.1:c.522+1_522+2dup
ENST00000662216.1:c.287+1_287+2dup	ENSP00000499467.1:n.287+1_287+2dup
ENST00000663780.1:n.249_250dup
ENST00000667629.1:c.316-2925_316-2924dup	ENSP00000499629.1:n.316-2925_316-2924dup
ENST00000670301.1:c.230-4086_230-4085dup
ENST00000366641.3:c.1148+1_1148+2dup	ENSP00000355601.3:n.1148+1_1148+2dup
ENST00000476717.1:n.425+1_425+2dup
NM_022051.2:c.1148+1_1148+2dup	NP_071334.1:n.1148+1_1148+2dup
XM_005273166.3:c.1148+1_1148+2dup	XP_005273223.1:n.1148+1_1148+2dup
XM_005273167.3:c.1012-2925_1012-2924dup	XP_005273224.1:n.1012-2925_1012-2924dup
XM_005273166.5:c.1148+1_1148+2dup	XP_005273223.1:n.1148+1_1148+2dup
XM_005273167.5:c.1012-2925_1012-2924dup	XP_005273224.1:n.1012-2925_1012-2924dup
XM_024447734.1:c.1012-2925_1012-2924dup	XP_024303502.1:n.1012-2925_1012-2924dup
NM_001377260.1:c.1148+1_1148+2dup	NP_001364189.1:n.1148+1_1148+2dup
NM_001377261.1:c.1012-2925_1012-2924dup	NP_001364190.1:n.1012-2925_1012-2924dup
NM_022051.3:c.1148+1_1148+2dup MANE Select	NP_071334.1:n.1148+1_1148+2dup