Canonical Allele Identifier: CA2573129747
Gene: EGFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174776_55174792delinsCCACA , CM000669.2:g.55174776_55174792delinsCCACA GRCh38
NC_000007.13:g.55242469_55242485delinsCCACA , CM000669.1:g.55242469_55242485delinsCCACA GRCh37
NC_000007.12:g.55209963_55209979delinsCCACA NCBI36
NG_007726.3:g.160745_160761delinsCCACA , LRG_304:g.160745_160761delinsCCACA

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2080_2096delinsCCACA ENSP00000413354.2:p.Leu694_Ser699delinsPr...
ENST00000700145.1:c.588_604delinsCCACA
ENST00000275493.7:c.2239_2255delinsCCACA MANE Select ENSP00000275493.2:p.Leu747_Ser752delinsPr...
ENST00000275493.6:c.2239_2255delinsCCACA ENSP00000275493.2:p.Leu747_Ser752delinsPr...
ENST00000442591.5:c.*28+1848_*28+1864delinsCCACA ENSP00000410031.1:n.*28+1848_*28+1864deli...
ENST00000454757.6:c.2104_2120delinsCCACA ENSP00000395243.3:p.Leu702_Ser707delinsPr...
ENST00000455089.5:c.2104_2120delinsCCACA ENSP00000415559.1:p.Leu702_Ser707delinsPr...
NM_005228.3:c.2239_2255delinsCCACA , LRG_304t1:c.2239_2255delinsCCACA NP_005219.2:p.Leu747_Ser752delinsProHis
NM_001346897.1:c.2104_2120delinsCCACA NP_001333826.1:p.Leu702_Ser707delinsProHi...
NM_001346898.1:c.2239_2255delinsCCACA NP_001333827.1:p.Leu747_Ser752delinsProHi...
NM_001346899.1:c.2104_2120delinsCCACA NP_001333828.1:p.Leu702_Ser707delinsProHi...
NM_001346900.1:c.2080_2096delinsCCACA NP_001333829.1:p.Leu694_Ser699delinsProHi...
NM_001346941.1:c.1438_1454delinsCCACA NP_001333870.1:p.Leu480_Ser485delinsProHi...
NM_005228.4:c.2239_2255delinsCCACA NP_005219.2:p.Leu747_Ser752delinsProHis
NM_005228.5:c.2239_2255delinsCCACA MANE Select NP_005219.2:p.Leu747_Ser752delinsProHis
NM_001346897.2:c.2104_2120delinsCCACA NP_001333826.1:p.Leu702_Ser707delinsProHi...
NM_001346898.2:c.2239_2255delinsCCACA NP_001333827.1:p.Leu747_Ser752delinsProHi...
NM_001346900.2:c.2080_2096delinsCCACA NP_001333829.1:p.Leu694_Ser699delinsProHi...
NM_001346941.2:c.1438_1454delinsCCACA NP_001333870.1:p.Leu480_Ser485delinsProHi...
NM_001346899.2:c.2104_2120delinsCCACA NP_001333828.1:p.Leu702_Ser707delinsProHi...