Canonical Allele Identifier: CA1879980135
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127815213_127815262delinsCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGT , CM000671.2:g.127815213_127815262delinsCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGT GRCh38
NC_000009.11:g.130577492_130577541delinsCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGT , CM000671.1:g.130577492_130577541delinsCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGT GRCh37
NC_000009.10:g.129617313_129617362delinsCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGT NCBI36
NG_009551.1:g.44507_44556delinsACCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAACTG , LRG_589:g.44507_44556delinsACCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAACTG
NG_023245.1:g.17339_17388delinsCAGTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.*420_*469delinsACCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAACTG ENSP00000479015.1:n.*420_*469delinsACCTGGATCTATCCCTGCGGCCTCCA...
ENST00000373203.9:c.*420_*469delinsACCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAACTG MANE Select ENSP00000362299.4:n.*420_*469delinsACCTGGATCTATCCCTGCGGCCTCCA...
ENST00000344849.4:c.*655_*704delinsACCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAACTG ENSP00000341917.3:n.*655_*704delinsACCTGGATCTATCCCTGCGGCCTCCA...
ENST00000373203.8:c.*420_*469delinsACCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAACTG ENSP00000362299.4:n.*420_*469delinsACCTGGATCTATCCCTGCGGCCTCCA...
ENST00000480266.5:c.*420_*469delinsACCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAACTG ENSP00000479015.1:n.*420_*469delinsACCTGGATCTATCCCTGCGGCCTCCA...
NM_000118.3:c.*655_*704delinsACCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAACTG , LRG_589t1:c.*655_*704delinsACCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAACTG NP_000109.1:n.*655_*704delinsACCTGGATCTATCCCTGCGGCCTCCACACCTG...
NM_001114753.2:c.*420_*469delinsACCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAACTG , LRG_589t2:c.*420_*469delinsACCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAACTG NP_001108225.1:n.*420_*469delinsACCTGGATCTATCCCTGCGGCCTCCACAC...
NM_001278138.1:c.*420_*469delinsACCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAACTG NP_001265067.1:n.*420_*469delinsACCTGGATCTATCCCTGCGGCCTCCACAC...
NM_001114753.3:c.*420_*469delinsACCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAACTG MANE Select NP_001108225.1:n.*420_*469delinsACCTGGATCTATCCCTGCGGCCTCCACAC...
NM_001278138.2:c.*420_*469delinsACCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAACTG NP_001265067.1:n.*420_*469delinsACCTGGATCTATCCCTGCGGCCTCCACAC...