Canonical Allele Identifier: CA2785996515
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127825358_127825359insCGGCCGAG , CM000671.2:g.127825358_127825359insCGGCCGAG GRCh38
NC_000009.11:g.130587637_130587638insCGGCCGAG , CM000671.1:g.130587637_130587638insCGGCCGAG GRCh37
NC_000009.10:g.129627458_129627459insCGGCCGAG NCBI36
NG_009551.1:g.34410_34411insCTCGGCCG , LRG_589:g.34410_34411insCTCGGCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.144-2_144-1insCTCGGCCG ENSP00000479015.1:n.144-2_144-1insCTCGGCCG
ENST00000373203.9:c.690-2_690-1insCTCGGCCG MANE Select ENSP00000362299.4:n.690-2_690-1insCTCGGCCG
ENST00000344849.4:c.690-2_690-1insCTCGGCCG ENSP00000341917.3:n.690-2_690-1insCTCGGCCG
ENST00000373203.8:c.690-2_690-1insCTCGGCCG ENSP00000362299.4:n.690-2_690-1insCTCGGCCG
ENST00000480266.5:c.144-2_144-1insCTCGGCCG ENSP00000479015.1:n.144-2_144-1insCTCGGCCG
NM_000118.3:c.690-2_690-1insCTCGGCCG , LRG_589t1:c.690-2_690-1insCTCGGCCG NP_000109.1:n.690-2_690-1insCTCGGCCG
NM_001114753.2:c.690-2_690-1insCTCGGCCG , LRG_589t2:c.690-2_690-1insCTCGGCCG NP_001108225.1:n.690-2_690-1insCTCGGCCG
NM_001278138.1:c.144-2_144-1insCTCGGCCG NP_001265067.1:n.144-2_144-1insCTCGGCCG
NM_001114753.3:c.690-2_690-1insCTCGGCCG MANE Select NP_001108225.1:n.690-2_690-1insCTCGGCCG
NM_001278138.2:c.144-2_144-1insCTCGGCCG NP_001265067.1:n.144-2_144-1insCTCGGCCG