Canonical Allele Identifier: CA1879972561
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127824352_127824354delinsCTT , CM000671.2:g.127824352_127824354delinsCTT GRCh38
NC_000009.11:g.130586631_130586633delinsCTT , CM000671.1:g.130586631_130586633delinsCTT GRCh37
NC_000009.10:g.129626452_129626454delinsCTT NCBI36
NG_009551.1:g.35415_35417delinsAAG , LRG_589:g.35415_35417delinsAAG

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.538_540delinsAAG ENSP00000479015.1:p.Lys180=
ENST00000373203.9:c.1084_1086delinsAAG MANE Select ENSP00000362299.4:p.Lys362=
ENST00000344849.4:c.1084_1086delinsAAG ENSP00000341917.3:p.Lys362=
ENST00000373203.8:c.1084_1086delinsAAG ENSP00000362299.4:p.Lys362=
ENST00000480266.5:c.538_540delinsAAG ENSP00000479015.1:p.Lys180=
ENST00000486329.1:n.52_54delinsAAG
NM_000118.3:c.1084_1086delinsAAG , LRG_589t1:c.1084_1086delinsAAG NP_000109.1:p.Lys362=
NM_001114753.2:c.1084_1086delinsAAG , LRG_589t2:c.1084_1086delinsAAG NP_001108225.1:p.Lys362=
NM_001278138.1:c.538_540delinsAAG NP_001265067.1:p.Lys180=
NM_001114753.3:c.1084_1086delinsAAG MANE Select NP_001108225.1:p.Lys362=
NM_001278138.2:c.538_540delinsAAG NP_001265067.1:p.Lys180=