Canonical Allele Identifier: CA645561550
Community Standard Title: NM_005228.5(EGFR):c.2252_2277delinsAT (p.Thr751_Ile759delinsAsn)
Gene: EGFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174789_55174814delinsAT , CM000669.2:g.55174789_55174814delinsAT GRCh38
NC_000007.13:g.55242482_55242507delinsAT , CM000669.1:g.55242482_55242507delinsAT GRCh37
NC_000007.12:g.55209976_55210001delinsAT NCBI36
NG_007726.3:g.160758_160783delinsAT , LRG_304:g.160758_160783delinsAT

Transcript Alleles

HGVS Amino-acid Change
NM_005228.5:c.2252_2277delinsAT MANE Select NP_005219.2:p.Thr751_Ile759delinsAsn
ENST00000275493.7:c.2252_2277delinsAT MANE Select ENSP00000275493.2:p.Thr751_Ile759delinsAsn
NM_001346897.1:c.2117_2142delinsAT NP_001333826.1:p.Thr706_Ile714delinsAsn
NM_001346897.2:c.2117_2142delinsAT NP_001333826.1:p.Thr706_Ile714delinsAsn
NM_001346898.1:c.2252_2277delinsAT NP_001333827.1:p.Thr751_Ile759delinsAsn
NM_001346898.2:c.2252_2277delinsAT NP_001333827.1:p.Thr751_Ile759delinsAsn
NM_001346899.1:c.2117_2142delinsAT NP_001333828.1:p.Thr706_Ile714delinsAsn
NM_001346899.2:c.2117_2142delinsAT NP_001333828.1:p.Thr706_Ile714delinsAsn
NM_001346900.1:c.2093_2118delinsAT NP_001333829.1:p.Thr698_Ile706delinsAsn
NM_001346900.2:c.2093_2118delinsAT NP_001333829.1:p.Thr698_Ile706delinsAsn
NM_001346941.1:c.1451_1476delinsAT NP_001333870.1:p.Thr484_Ile492delinsAsn
NM_001346941.2:c.1451_1476delinsAT NP_001333870.1:p.Thr484_Ile492delinsAsn
NM_005228.3:c.2252_2277delinsAT , LRG_304t1:c.2252_2277delinsAT NP_005219.2:p.Thr751_Ile759delinsAsn
NM_005228.4:c.2252_2277delinsAT NP_005219.2:p.Thr751_Ile759delinsAsn
ENST00000275493.6:c.2252_2277delinsAT ENSP00000275493.2:p.Thr751_Ile759delinsAsn
ENST00000442591.5:c.*28+1861_*28+1886delinsAT ENSP00000410031.1:n.*28+1861_*28+1886delinsAT
ENST00000450046.2:c.2093_2118delinsAT ENSP00000413354.2:p.Thr698_Ile706delinsAsn
ENST00000454757.6:c.2117_2142delinsAT ENSP00000395243.3:p.Thr706_Ile714delinsAsn
ENST00000455089.5:c.2117_2142delinsAT ENSP00000415559.1:p.Thr706_Ile714delinsAsn
ENST00000700145.1:c.601_626delinsAT