Canonical Allele Identifier: CA1879975073
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127825404_127825424delinsGCGGGGAGCGAGGCCTGGCGT , CM000671.2:g.127825404_127825424delinsGCGGGGAGCGAGGCCTGGCGT GRCh38
NC_000009.11:g.130587683_130587703delinsGCGGGGAGCGAGGCCTGGCGT , CM000671.1:g.130587683_130587703delinsGCGGGGAGCGAGGCCTGGCGT GRCh37
NC_000009.10:g.129627504_129627524delinsGCGGGGAGCGAGGCCTGGCGT NCBI36
NG_009551.1:g.34345_34365delinsACGCCAGGCCTCGCTCCCCGC , LRG_589:g.34345_34365delinsACGCCAGGCCTCGCTCCCCGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.144-67_144-47delinsACGCCAGGCCTCGCTCCCCGC ENSP00000479015.1:n.144-67_144-47delinsACGCCAGGCCTCGCTCCCCGC
ENST00000373203.9:c.690-67_690-47delinsACGCCAGGCCTCGCTCCCCGC MANE Select ENSP00000362299.4:n.690-67_690-47delinsACGCCAGGCCTCGCTCCCCGC
ENST00000344849.4:c.690-67_690-47delinsACGCCAGGCCTCGCTCCCCGC ENSP00000341917.3:n.690-67_690-47delinsACGCCAGGCCTCGCTCCCCGC
ENST00000373203.8:c.690-67_690-47delinsACGCCAGGCCTCGCTCCCCGC ENSP00000362299.4:n.690-67_690-47delinsACGCCAGGCCTCGCTCCCCGC
ENST00000480266.5:c.144-67_144-47delinsACGCCAGGCCTCGCTCCCCGC ENSP00000479015.1:n.144-67_144-47delinsACGCCAGGCCTCGCTCCCCGC
NM_000118.3:c.690-67_690-47delinsACGCCAGGCCTCGCTCCCCGC , LRG_589t1:c.690-67_690-47delinsACGCCAGGCCTCGCTCCCCGC NP_000109.1:n.690-67_690-47delinsACGCCAGGCCTCGCTCCCCGC
NM_001114753.2:c.690-67_690-47delinsACGCCAGGCCTCGCTCCCCGC , LRG_589t2:c.690-67_690-47delinsACGCCAGGCCTCGCTCCCCGC NP_001108225.1:n.690-67_690-47delinsACGCCAGGCCTCGCTCCCCGC
NM_001278138.1:c.144-67_144-47delinsACGCCAGGCCTCGCTCCCCGC NP_001265067.1:n.144-67_144-47delinsACGCCAGGCCTCGCTCCCCGC
XR_001746952.2:n.28_48delinsGCGGGGAGCGAGGCCTGGCGT
NM_001114753.3:c.690-67_690-47delinsACGCCAGGCCTCGCTCCCCGC MANE Select NP_001108225.1:n.690-67_690-47delinsACGCCAGGCCTCGCTCCCCGC
NM_001278138.2:c.144-67_144-47delinsACGCCAGGCCTCGCTCCCCGC NP_001265067.1:n.144-67_144-47delinsACGCCAGGCCTCGCTCCCCGC