Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55181322_55181323insACA , CM000669.2:g.55181322_55181323insACA	GRCh38
NC_000007.13:g.55249015_55249016insACA , CM000669.1:g.55249015_55249016insACA	GRCh37
NC_000007.12:g.55216509_55216510insACA	NCBI36
NG_007726.3:g.167291_167292insACA , LRG_304:g.167291_167292insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2154_2155insACA (EGFR)	ENSP00000413354.2:p.Asn718_Pro719insThr
ENST00000700145.1:c.662_663insACA (EGFR)
ENST00000275493.7:c.2313_2314insACA (EGFR) MANE Select	ENSP00000275493.2:p.Asn771_Pro772insThr
ENST00000275493.6:c.2313_2314insACA (EGFR)	ENSP00000275493.2:p.Asn771_Pro772insThr
ENST00000442591.5:c.28+8394_28+8395insACA (EGFR)	ENSP00000410031.1:n.28+8394_28+8395insACA
ENST00000454757.6:c.2178_2179insACA (EGFR)	ENSP00000395243.3:p.Asn726_Pro727insThr
ENST00000455089.5:c.2178_2179insACA (EGFR)	ENSP00000415559.1:p.Asn726_Pro727insThr
NM_005228.3:c.2313_2314insACA , LRG_304t1:c.2313_2314insACA (EGFR)	NP_005219.2:p.Asn771_Pro772insThr
NR_047551.1:n.1248_1249insTGT (EGFR-AS1)
NM_001346897.1:c.2178_2179insACA (EGFR)	NP_001333826.1:p.Asn726_Pro727insThr
NM_001346898.1:c.2313_2314insACA (EGFR)	NP_001333827.1:p.Asn771_Pro772insThr
NM_001346899.1:c.2178_2179insACA (EGFR)	NP_001333828.1:p.Asn726_Pro727insThr
NM_001346900.1:c.2154_2155insACA (EGFR)	NP_001333829.1:p.Asn718_Pro719insThr
NM_001346941.1:c.1512_1513insACA (EGFR)	NP_001333870.1:p.Asn504_Pro505insThr
NM_005228.4:c.2313_2314insACA (EGFR)	NP_005219.2:p.Asn771_Pro772insThr
NM_005228.5:c.2313_2314insACA (EGFR) MANE Select	NP_005219.2:p.Asn771_Pro772insThr
NM_001346897.2:c.2178_2179insACA (EGFR)	NP_001333826.1:p.Asn726_Pro727insThr
NM_001346898.2:c.2313_2314insACA (EGFR)	NP_001333827.1:p.Asn771_Pro772insThr
NM_001346900.2:c.2154_2155insACA (EGFR)	NP_001333829.1:p.Asn718_Pro719insThr
NM_001346941.2:c.1512_1513insACA (EGFR)	NP_001333870.1:p.Asn504_Pro505insThr
NM_001346899.2:c.2178_2179insACA (EGFR)	NP_001333828.1:p.Asn726_Pro727insThr