Canonical Allele Identifier: CA645561527
Gene: EGFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174776_55174790delinsAAT , CM000669.2:g.55174776_55174790delinsAAT GRCh38
NC_000007.13:g.55242469_55242483delinsAAT , CM000669.1:g.55242469_55242483delinsAAT GRCh37
NC_000007.12:g.55209963_55209977delinsAAT NCBI36
NG_007726.3:g.160745_160759delinsAAT , LRG_304:g.160745_160759delinsAAT

Transcript Alleles

HGVS Amino-acid Change
NM_005228.5:c.2239_2253delinsAAT MANE Select NP_005219.2:p.Leu747_Thr751delinsAsn
ENST00000275493.7:c.2239_2253delinsAAT MANE Select ENSP00000275493.2:p.Leu747_Thr751delinsAsn
NM_001346897.1:c.2104_2118delinsAAT NP_001333826.1:p.Leu702_Thr706delinsAsn
NM_001346897.2:c.2104_2118delinsAAT NP_001333826.1:p.Leu702_Thr706delinsAsn
NM_001346898.1:c.2239_2253delinsAAT NP_001333827.1:p.Leu747_Thr751delinsAsn
NM_001346898.2:c.2239_2253delinsAAT NP_001333827.1:p.Leu747_Thr751delinsAsn
NM_001346899.1:c.2104_2118delinsAAT NP_001333828.1:p.Leu702_Thr706delinsAsn
NM_001346899.2:c.2104_2118delinsAAT NP_001333828.1:p.Leu702_Thr706delinsAsn
NM_001346900.1:c.2080_2094delinsAAT NP_001333829.1:p.Leu694_Thr698delinsAsn
NM_001346900.2:c.2080_2094delinsAAT NP_001333829.1:p.Leu694_Thr698delinsAsn
NM_001346941.1:c.1438_1452delinsAAT NP_001333870.1:p.Leu480_Thr484delinsAsn
NM_001346941.2:c.1438_1452delinsAAT NP_001333870.1:p.Leu480_Thr484delinsAsn
NM_005228.3:c.2239_2253delinsAAT , LRG_304t1:c.2239_2253delinsAAT NP_005219.2:p.Leu747_Thr751delinsAsn
NM_005228.4:c.2239_2253delinsAAT NP_005219.2:p.Leu747_Thr751delinsAsn
ENST00000275493.6:c.2239_2253delinsAAT ENSP00000275493.2:p.Leu747_Thr751delinsAsn
ENST00000442591.5:c.*28+1848_*28+1862delinsAAT ENSP00000410031.1:n.*28+1848_*28+1862delinsAAT
ENST00000450046.2:c.2080_2094delinsAAT ENSP00000413354.2:p.Leu694_Thr698delinsAsn
ENST00000454757.6:c.2104_2118delinsAAT ENSP00000395243.3:p.Leu702_Thr706delinsAsn
ENST00000455089.5:c.2104_2118delinsAAT ENSP00000415559.1:p.Leu702_Thr706delinsAsn
ENST00000700145.1:c.588_602delinsAAT