Canonical Allele Identifier: CA2785996551
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127825599_127825659del , CM000671.2:g.127825599_127825659del GRCh38
NC_000009.11:g.130587878_130587938del , CM000671.1:g.130587878_130587938del GRCh37
NC_000009.10:g.129627699_129627759del NCBI36
NG_009551.1:g.34110_34170del , LRG_589:g.34110_34170del

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.143+36_143+96del ENSP00000479015.1:n.143+36_143+96del
ENST00000373203.9:c.689+36_689+96del MANE Select ENSP00000362299.4:n.689+36_689+96del
ENST00000344849.4:c.689+36_689+96del ENSP00000341917.3:n.689+36_689+96del
ENST00000373203.8:c.689+36_689+96del ENSP00000362299.4:n.689+36_689+96del
ENST00000480266.5:c.143+36_143+96del ENSP00000479015.1:n.143+36_143+96del
NM_000118.3:c.689+36_689+96del , LRG_589t1:c.689+36_689+96del NP_000109.1:n.689+36_689+96del
NM_001114753.2:c.689+36_689+96del , LRG_589t2:c.689+36_689+96del NP_001108225.1:n.689+36_689+96del
NM_001278138.1:c.143+36_143+96del NP_001265067.1:n.143+36_143+96del
XR_001746952.2:n.82+141_82+201del
NM_001114753.3:c.689+36_689+96del MANE Select NP_001108225.1:n.689+36_689+96del
NM_001278138.2:c.143+36_143+96del NP_001265067.1:n.143+36_143+96del