Canonical Allele Identifier: CA2695211231
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127818305_127818306dup , CM000671.2:g.127818305_127818306dup GRCh38
NC_000009.11:g.130580584_130580585dup , CM000671.1:g.130580584_130580585dup GRCh37
NC_000009.10:g.129620405_129620406dup NCBI36
NG_009551.1:g.41464_41465dup , LRG_589:g.41464_41465dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.955_956dup ENSP00000479015.1:p.Gly320GlufsTer17
ENST00000373203.9:c.1501_1502dup MANE Select ENSP00000362299.4:p.Gly502GlufsTer17
ENST00000344849.4:c.1501_1502dup ENSP00000341917.3:p.Gly502GlufsTer17
ENST00000373203.8:c.1501_1502dup ENSP00000362299.4:p.Gly502GlufsTer17
ENST00000480266.5:c.955_956dup ENSP00000479015.1:p.Gly320GlufsTer17
NM_000118.3:c.1501_1502dup , LRG_589t1:c.1501_1502dup NP_000109.1:p.Gly502GlufsTer17
NM_001114753.2:c.1501_1502dup , LRG_589t2:c.1501_1502dup NP_001108225.1:p.Gly502GlufsTer17
NM_001278138.1:c.955_956dup NP_001265067.1:p.Gly320GlufsTer17
NR_136302.1:n.1378-6_1378-5dup
NM_001114753.3:c.1501_1502dup MANE Select NP_001108225.1:p.Gly502GlufsTer17
NM_001278138.2:c.955_956dup NP_001265067.1:p.Gly320GlufsTer17