Canonical Allele Identifier: CA2574155036

Gene: EGLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231421887_231421892dup , CM000663.2:g.231421887_231421892dup	GRCh38
NC_000001.10:g.231557633_231557638dup , CM000663.1:g.231557633_231557638dup	GRCh37
NC_000001.9:g.229624256_229624261dup	NCBI36
NG_015865.1:g.8153_8158dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000366641.4:c.-4_2dup MANE Select	ENSP00000355601.3:p.Met1insIleAla
ENST00000653198.1:n.433+40580_433+40585dup
ENST00000653908.1:c.30+40546_30+40551dup	ENSP00000499669.1:n.30+40546_30+40551dup
ENST00000662216.1:c.30+40546_30+40551dup	ENSP00000499467.1:n.30+40546_30+40551dup
ENST00000366641.3:c.-4_2dup	ENSP00000355601.3:p.Met1insIleAla
NM_022051.2:c.-4_2dup	NP_071334.1:p.Met1insIleAla
XM_005273166.3:c.-4_2dup	XP_005273223.1:p.Met1insIleAla
XM_005273167.3:c.-4_2dup	XP_005273224.1:p.Met1insIleAla
XM_005273166.5:c.-4_2dup	XP_005273223.1:p.Met1insIleAla
XM_005273167.5:c.-4_2dup	XP_005273224.1:p.Met1insIleAla
XM_024447734.1:c.-4_2dup	XP_024303502.1:p.Met1insIleAla
NM_001377260.1:c.-4_2dup	NP_001364189.1:p.Met1insIleAla
NM_001377261.1:c.-4_2dup	NP_001364190.1:p.Met1insIleAla
NM_022051.3:c.-4_2dup MANE Select	NP_071334.1:p.Met1insIleAla