Canonical Allele Identifier: CA645550319
Gene: EGFR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174751_55174768dup , CM000669.2:g.55174751_55174768dup GRCh38
NC_000007.13:g.55242444_55242461dup , CM000669.1:g.55242444_55242461dup GRCh37
NC_000007.12:g.55209938_55209955dup NCBI36
NG_007726.3:g.160720_160737dup , LRG_304:g.160720_160737dup

Transcript Alleles

HGVS Amino-acid change
ENST00000275493.7:c.2214_2231dup MANE Select ENSP00000275493.2:p.Ile744_Lys745insLysIl...
ENST00000275493.6:c.2214_2231dup ENSP00000275493.2:p.Ile744_Lys745insLysIl...
ENST00000442591.5:c.*28+1823_*28+1840dup ENSP00000410031.1:n.*28+1823_*28+1840dup
ENST00000454757.6:c.2079_2096dup ENSP00000395243.3:p.Ile699_Lys700insLysIl...
ENST00000455089.5:c.2079_2096dup ENSP00000415559.1:p.Ile699_Lys700insLysIl...
NM_005228.3:c.2214_2231dup , LRG_304t1:c.2214_2231dup NP_005219.2:p.Ile744_Lys745insLysIleProVa...
NM_001346897.1:c.2079_2096dup NP_001333826.1:p.Ile699_Lys700insLysIlePr...
NM_001346898.1:c.2214_2231dup NP_001333827.1:p.Ile744_Lys745insLysIlePr...
NM_001346899.1:c.2079_2096dup NP_001333828.1:p.Ile699_Lys700insLysIlePr...
NM_001346900.1:c.2055_2072dup NP_001333829.1:p.Ile691_Lys692insLysIlePr...
NM_001346941.1:c.1413_1430dup NP_001333870.1:p.Ile477_Lys478insLysIlePr...
NM_005228.4:c.2214_2231dup NP_005219.2:p.Ile744_Lys745insLysIleProVa...
NM_005228.5:c.2214_2231dup MANE Select NP_005219.2:p.Ile744_Lys745insLysIleProVa...
NM_001346897.2:c.2079_2096dup NP_001333826.1:p.Ile699_Lys700insLysIlePr...
NM_001346898.2:c.2214_2231dup NP_001333827.1:p.Ile744_Lys745insLysIlePr...
NM_001346900.2:c.2055_2072dup NP_001333829.1:p.Ile691_Lys692insLysIlePr...
NM_001346941.2:c.1413_1430dup NP_001333870.1:p.Ile477_Lys478insLysIlePr...
NM_001346899.2:c.2079_2096dup NP_001333828.1:p.Ile699_Lys700insLysIlePr...