Canonical Allele Identifier: CA645561612
Gene: EGFR HGNC NCBI

Linked Data

dbSNP Id: rs1057519847
COSMIC: COSM24268

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55191821_55191822delinsAA , CM000669.2:g.55191821_55191822delinsAA GRCh38
NC_000007.13:g.55259514_55259515delinsAA , CM000669.1:g.55259514_55259515delinsAA GRCh37
NC_000007.12:g.55227008_55227009delinsAA NCBI36
NG_007726.3:g.177790_177791delinsAA , LRG_304:g.177790_177791delinsAA

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2413_2414delinsAA ENSP00000413354.2:p.Leu805Lys
ENST00000700145.1:c.899+22_899+23delinsAA
ENST00000275493.7:c.2572_2573delinsAA MANE Select ENSP00000275493.2:p.Leu858Lys
ENST00000275493.6:c.2572_2573delinsAA ENSP00000275493.2:p.Leu858Lys
ENST00000442591.5:c.*28+18893_*28+18894delinsAA ENSP00000410031.1:n.*28+18893_*28+18894de...
ENST00000454757.6:c.2437_2438delinsAA ENSP00000395243.3:p.Leu813Lys
ENST00000455089.5:c.2437_2438delinsAA ENSP00000415559.1:p.Leu813Lys
NM_005228.3:c.2572_2573delinsAA , LRG_304t1:c.2572_2573delinsAA NP_005219.2:p.Leu858Lys
NM_001346897.1:c.2437_2438delinsAA NP_001333826.1:p.Leu813Lys
NM_001346898.1:c.2572_2573delinsAA NP_001333827.1:p.Leu858Lys
NM_001346899.1:c.2437_2438delinsAA NP_001333828.1:p.Leu813Lys
NM_001346900.1:c.2413_2414delinsAA NP_001333829.1:p.Leu805Lys
NM_001346941.1:c.1771_1772delinsAA NP_001333870.1:p.Leu591Lys
NM_005228.4:c.2572_2573delinsAA NP_005219.2:p.Leu858Lys
NM_005228.5:c.2572_2573delinsAA MANE Select NP_005219.2:p.Leu858Lys
NM_001346897.2:c.2437_2438delinsAA NP_001333826.1:p.Leu813Lys
NM_001346898.2:c.2572_2573delinsAA NP_001333827.1:p.Leu858Lys
NM_001346900.2:c.2413_2414delinsAA NP_001333829.1:p.Leu805Lys
NM_001346941.2:c.1771_1772delinsAA NP_001333870.1:p.Leu591Lys
NM_001346899.2:c.2437_2438delinsAA NP_001333828.1:p.Leu813Lys