Canonical Allele Identifier: CA2695211271
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127819940_127819942del , CM000671.2:g.127819940_127819942del GRCh38
NC_000009.11:g.130582219_130582221del , CM000671.1:g.130582219_130582221del GRCh37
NC_000009.10:g.129622040_129622042del NCBI36
NG_009551.1:g.39828_39830del , LRG_589:g.39828_39830del

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.685_687del ENSP00000479015.1:p.Ser229del
ENST00000373203.9:c.1231_1233del MANE Select ENSP00000362299.4:p.Ser411del
ENST00000344849.4:c.1231_1233del ENSP00000341917.3:p.Ser411del
ENST00000373203.8:c.1231_1233del ENSP00000362299.4:p.Ser411del
ENST00000480266.5:c.685_687del ENSP00000479015.1:p.Ser229del
ENST00000486329.1:n.199_201del
NM_000118.3:c.1231_1233del , LRG_589t1:c.1231_1233del NP_000109.1:p.Ser411del
NM_001114753.2:c.1231_1233del , LRG_589t2:c.1231_1233del NP_001108225.1:p.Ser411del
NM_001278138.1:c.685_687del NP_001265067.1:p.Ser229del
NR_136302.1:n.1568+1229_1568+1231del
NM_001114753.3:c.1231_1233del MANE Select NP_001108225.1:p.Ser411del
NM_001278138.2:c.685_687del NP_001265067.1:p.Ser229del