Canonical Allele Identifier: CA1879972929
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127824512_127824528delinsCTTTTTTTTTTTTTTTT , CM000671.2:g.127824512_127824528delinsCTTTTTTTTTTTTTTTT GRCh38
NC_000009.11:g.130586791_130586807delinsCTTTTTTTTTTTTTTTT , CM000671.1:g.130586791_130586807delinsCTTTTTTTTTTTTTTTT GRCh37
NC_000009.10:g.129626612_129626628delinsCTTTTTTTTTTTTTTTT NCBI36
NG_009551.1:g.35241_35257delinsAAAAAAAAAAAAAAAAG , LRG_589:g.35241_35257delinsAAAAAAAAAAAAAAAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.446-82_446-66delinsAAAAAAAAAAAAAAAAG ENSP00000479015.1:n.446-82_446-66delinsAAAAAAAAAAAAAAAAG
ENST00000373203.9:c.992-82_992-66delinsAAAAAAAAAAAAAAAAG MANE Select ENSP00000362299.4:n.992-82_992-66delinsAAAAAAAAAAAAAAAAG
ENST00000344849.4:c.992-82_992-66delinsAAAAAAAAAAAAAAAAG ENSP00000341917.3:n.992-82_992-66delinsAAAAAAAAAAAAAAAAG
ENST00000373203.8:c.992-82_992-66delinsAAAAAAAAAAAAAAAAG ENSP00000362299.4:n.992-82_992-66delinsAAAAAAAAAAAAAAAAG
ENST00000480266.5:c.446-82_446-66delinsAAAAAAAAAAAAAAAAG ENSP00000479015.1:n.446-82_446-66delinsAAAAAAAAAAAAAAAAG
NM_000118.3:c.992-82_992-66delinsAAAAAAAAAAAAAAAAG , LRG_589t1:c.992-82_992-66delinsAAAAAAAAAAAAAAAAG NP_000109.1:n.992-82_992-66delinsAAAAAAAAAAAAAAAAG
NM_001114753.2:c.992-82_992-66delinsAAAAAAAAAAAAAAAAG , LRG_589t2:c.992-82_992-66delinsAAAAAAAAAAAAAAAAG NP_001108225.1:n.992-82_992-66delinsAAAAAAAAAAAAAAAAG
NM_001278138.1:c.446-82_446-66delinsAAAAAAAAAAAAAAAAG NP_001265067.1:n.446-82_446-66delinsAAAAAAAAAAAAAAAAG
NM_001114753.3:c.992-82_992-66delinsAAAAAAAAAAAAAAAAG MANE Select NP_001108225.1:n.992-82_992-66delinsAAAAAAAAAAAAAAAAG
NM_001278138.2:c.446-82_446-66delinsAAAAAAAAAAAAAAAAG NP_001265067.1:n.446-82_446-66delinsAAAAAAAAAAAAAAAAG