Canonical Allele Identifier: CA2580611830
Gene: EGFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55201065_55201193del , CM000669.2:g.55201065_55201193del GRCh38
NC_000007.13:g.55268758_55268886del , CM000669.1:g.55268758_55268886del GRCh37
NC_000007.12:g.55236252_55236380del NCBI36
NG_007726.3:g.187034_187162del , LRG_304:g.187034_187162del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450046.2:c.2788-123_2793del
ENST00000700145.1:c.900-4282_900-4154del
ENST00000700146.1:n.691-123_696del
ENST00000700147.1:n.493_621del
ENST00000275493.7:c.2947-123_2952del
ENST00000275493.6:c.2947-123_2952del
ENST00000442591.5:c.*28+28137_*28+28265del ENSP00000410031.1:n.*28+28137_*28+28265del
ENST00000454757.6:c.2812-123_2817del
ENST00000455089.5:c.2812-123_2817del
NM_005228.3:c.2947-123_2952del , LRG_304t1:c.2947-123_2952del
NM_001346897.1:c.2812-123_2817del
NM_001346898.1:c.2947-123_2952del
NM_001346899.1:c.2812-123_2817del
NM_001346900.1:c.2788-123_2793del
NM_001346941.1:c.2146-123_2151del
NM_005228.4:c.2947-123_2952del
NM_005228.5:c.2947-123_2952del
NM_001346897.2:c.2812-123_2817del
NM_001346898.2:c.2947-123_2952del
NM_001346900.2:c.2788-123_2793del
NM_001346941.2:c.2146-123_2151del
NM_001346899.2:c.2812-123_2817del