Canonical Allele Identifier: CA16602728
Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 376280
ClinVar RCV Id: RCV000435887
dbSNP Id: rs1057519847
COSMIC: COSM13553

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55191821_55191822delinsAG , CM000669.2:g.55191821_55191822delinsAG GRCh38
NC_000007.13:g.55259514_55259515delinsAG , CM000669.1:g.55259514_55259515delinsAG GRCh37
NC_000007.12:g.55227008_55227009delinsAG NCBI36
NG_007726.3:g.177790_177791delinsAG , LRG_304:g.177790_177791delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000275493.7:c.2572_2573delinsAG MANE Select ENSP00000275493.2:p.Leu858Arg
ENST00000275493.6:c.2572_2573delinsAG ENSP00000275493.2:p.Leu858Arg
ENST00000442591.5:c.*28+18893_*28+18894delinsAG ENSP00000410031.1:p.=
ENST00000454757.6:c.2437_2438delinsAG ENSP00000395243.3:p.Leu813Arg
ENST00000455089.5:c.2437_2438delinsAG ENSP00000415559.1:p.Leu813Arg
NM_005228.3:c.2572_2573delinsAG , LRG_304t1:c.2572_2573delinsAG NP_005219.2:p.Leu858Arg
NM_001346897.1:c.2437_2438delinsAG NP_001333826.1:p.Leu813Arg
NM_001346898.1:c.2572_2573delinsAG NP_001333827.1:p.Leu858Arg
NM_001346899.1:c.2437_2438delinsAG NP_001333828.1:p.Leu813Arg
NM_001346900.1:c.2413_2414delinsAG NP_001333829.1:p.Leu805Arg
NM_001346941.1:c.1771_1772delinsAG NP_001333870.1:p.Leu591Arg
NM_005228.4:c.2572_2573delinsAG NP_005219.2:p.Leu858Arg
NM_005228.5:c.2572_2573delinsAG MANE Select NP_005219.2:p.Leu858Arg
NM_001346897.2:c.2437_2438delinsAG NP_001333826.1:p.Leu813Arg
NM_001346898.2:c.2572_2573delinsAG NP_001333827.1:p.Leu858Arg
NM_001346900.2:c.2413_2414delinsAG NP_001333829.1:p.Leu805Arg
NM_001346941.2:c.1771_1772delinsAG NP_001333870.1:p.Leu591Arg
NM_001346899.2:c.2437_2438delinsAG NP_001333828.1:p.Leu813Arg