Canonical Allele Identifier: CA645561542
Community Standard Title: NM_005228.5(EGFR):c.2250_2276delinsCAA (p.Thr751_Ile759delinsAsn)
Gene: EGFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174787_55174813delinsCAA , CM000669.2:g.55174787_55174813delinsCAA GRCh38
NC_000007.13:g.55242480_55242506delinsCAA , CM000669.1:g.55242480_55242506delinsCAA GRCh37
NC_000007.12:g.55209974_55210000delinsCAA NCBI36
NG_007726.3:g.160756_160782delinsCAA , LRG_304:g.160756_160782delinsCAA

Transcript Alleles

HGVS Amino-acid Change
NM_005228.5:c.2250_2276delinsCAA MANE Select NP_005219.2:p.Thr751_Ile759delinsAsn
ENST00000275493.7:c.2250_2276delinsCAA MANE Select ENSP00000275493.2:p.Thr751_Ile759delinsAsn
NM_001346897.1:c.2115_2141delinsCAA NP_001333826.1:p.Thr706_Ile714delinsAsn
NM_001346897.2:c.2115_2141delinsCAA NP_001333826.1:p.Thr706_Ile714delinsAsn
NM_001346898.1:c.2250_2276delinsCAA NP_001333827.1:p.Thr751_Ile759delinsAsn
NM_001346898.2:c.2250_2276delinsCAA NP_001333827.1:p.Thr751_Ile759delinsAsn
NM_001346899.1:c.2115_2141delinsCAA NP_001333828.1:p.Thr706_Ile714delinsAsn
NM_001346899.2:c.2115_2141delinsCAA NP_001333828.1:p.Thr706_Ile714delinsAsn
NM_001346900.1:c.2091_2117delinsCAA NP_001333829.1:p.Thr698_Ile706delinsAsn
NM_001346900.2:c.2091_2117delinsCAA NP_001333829.1:p.Thr698_Ile706delinsAsn
NM_001346941.1:c.1449_1475delinsCAA NP_001333870.1:p.Thr484_Ile492delinsAsn
NM_001346941.2:c.1449_1475delinsCAA NP_001333870.1:p.Thr484_Ile492delinsAsn
NM_005228.3:c.2250_2276delinsCAA , LRG_304t1:c.2250_2276delinsCAA NP_005219.2:p.Thr751_Ile759delinsAsn
NM_005228.4:c.2250_2276delinsCAA NP_005219.2:p.Thr751_Ile759delinsAsn
ENST00000275493.6:c.2250_2276delinsCAA ENSP00000275493.2:p.Thr751_Ile759delinsAsn
ENST00000442591.5:c.*28+1859_*28+1885delinsCAA ENSP00000410031.1:n.*28+1859_*28+1885delinsCAA
ENST00000450046.2:c.2091_2117delinsCAA ENSP00000413354.2:p.Thr698_Ile706delinsAsn
ENST00000454757.6:c.2115_2141delinsCAA ENSP00000395243.3:p.Thr706_Ile714delinsAsn
ENST00000455089.5:c.2115_2141delinsCAA ENSP00000415559.1:p.Thr706_Ile714delinsAsn
ENST00000700145.1:c.599_625delinsCAA