Canonical Allele Identifier: CA839804753

Gene: EGFR EGFR-AS1

Linked Data

• dbSNP Id: rs1354185849
• gnomAD v3: 7-55183709-TTTC-T
• gnomAD v4: 7-55183709-TTTC-T
• MyVariant Identifiers: chr7:g.55251403_55251405del (hg19) ; chr7:g.55183710_55183712del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55183715_55183717del , CM000669.2:g.55183715_55183717del	GRCh38
NC_000007.13:g.55251408_55251410del , CM000669.1:g.55251408_55251410del	GRCh37
NC_000007.12:g.55218902_55218904del	NCBI36
NG_007726.3:g.169684_169686del , LRG_304:g.169684_169686del

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2310+2237_2310+2239del (EGFR)	ENSP00000413354.2:n.2310+2237_2310+2239de...
ENST00000700145.1:c.818+2237_818+2239del (EGFR)
ENST00000275493.7:c.2469+2237_2469+2239del (EGFR) MANE Select	ENSP00000275493.2:n.2469+2237_2469+2239de...
ENST00000275493.6:c.2469+2237_2469+2239del (EGFR)	ENSP00000275493.2:n.2469+2237_2469+2239de...
ENST00000442591.5:c.*28+10787_*28+10789del (EGFR)	ENSP00000410031.1:n.*28+10787_*28+10789de...
ENST00000454757.6:c.2334+2237_2334+2239del (EGFR)	ENSP00000395243.3:n.2334+2237_2334+2239de...
ENST00000455089.5:c.2334+2237_2334+2239del (EGFR)	ENSP00000415559.1:n.2334+2237_2334+2239de...
NM_005228.3:c.2469+2237_2469+2239del , LRG_304t1:c.2469+2237_2469+2239del (EGFR)	NP_005219.2:n.2469+2237_2469+2239del
NR_047551.1:n.94-1235_94-1233del (EGFR-AS1)
NM_001346897.1:c.2334+2237_2334+2239del (EGFR)	NP_001333826.1:n.2334+2237_2334+2239del
NM_001346898.1:c.2469+2237_2469+2239del (EGFR)	NP_001333827.1:n.2469+2237_2469+2239del
NM_001346899.1:c.2334+2237_2334+2239del (EGFR)	NP_001333828.1:n.2334+2237_2334+2239del
NM_001346900.1:c.2310+2237_2310+2239del (EGFR)	NP_001333829.1:n.2310+2237_2310+2239del
NM_001346941.1:c.1668+2237_1668+2239del (EGFR)	NP_001333870.1:n.1668+2237_1668+2239del
NM_005228.4:c.2469+2237_2469+2239del (EGFR)	NP_005219.2:n.2469+2237_2469+2239del
NM_005228.5:c.2469+2237_2469+2239del (EGFR) MANE Select	NP_005219.2:n.2469+2237_2469+2239del
NM_001346897.2:c.2334+2237_2334+2239del (EGFR)	NP_001333826.1:n.2334+2237_2334+2239del
NM_001346898.2:c.2469+2237_2469+2239del (EGFR)	NP_001333827.1:n.2469+2237_2469+2239del
NM_001346900.2:c.2310+2237_2310+2239del (EGFR)	NP_001333829.1:n.2310+2237_2310+2239del
NM_001346941.2:c.1668+2237_1668+2239del (EGFR)	NP_001333870.1:n.1668+2237_1668+2239del
NM_001346899.2:c.2334+2237_2334+2239del (EGFR)	NP_001333828.1:n.2334+2237_2334+2239del