Linked Data
ClinVar Variation Id:
45262
ClinVar RCV Id:
RCV000038418
dbSNP Id:
rs397517116
MyVariant Identifiers:
chr7:g.55249019_55249024dupCACGTG (hg19)
chr7:g.55181326_55181331dupCACGTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55181326_55181331dup , CM000669.2:g.55181326_55181331dup | GRCh38 |
| NC_000007.13:g.55249019_55249024dup , CM000669.1:g.55249019_55249024dup | GRCh37 |
| NC_000007.12:g.55216513_55216518dup | NCBI36 |
| NG_007726.3:g.167295_167300dup , LRG_304:g.167295_167300dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2158_2163dup (EGFR) | ENSP00000413354.2:p.Val721_Cys722insHisVa... | |
| ENST00000700145.1:c.666_671dup (EGFR) | ||
| ENST00000275493.7:c.2317_2322dup (EGFR) MANE Select | ENSP00000275493.2:p.Val774_Cys775insHisVa... | |
| ENST00000275493.6:c.2317_2322dup (EGFR) | ENSP00000275493.2:p.Val774_Cys775insHisVa... | |
| ENST00000442591.5:c.*28+8398_*28+8403dup (EGFR) | ENSP00000410031.1:n.*28+8398_*28+8403dup | |
| ENST00000454757.6:c.2182_2187dup (EGFR) | ENSP00000395243.3:p.Val729_Cys730insHisVa... | |
| ENST00000455089.5:c.2182_2187dup (EGFR) | ENSP00000415559.1:p.Val729_Cys730insHisVa... | |
| NM_005228.3:c.2317_2322dup , LRG_304t1:c.2317_2322dup (EGFR) | NP_005219.2:p.Val774_Cys775insHisVal | |
| NR_047551.1:n.1240_1245dup (EGFR-AS1) | ||
| NM_001346897.1:c.2182_2187dup (EGFR) | NP_001333826.1:p.Val729_Cys730insHisVal | |
| NM_001346898.1:c.2317_2322dup (EGFR) | NP_001333827.1:p.Val774_Cys775insHisVal | |
| NM_001346899.1:c.2182_2187dup (EGFR) | NP_001333828.1:p.Val729_Cys730insHisVal | |
| NM_001346900.1:c.2158_2163dup (EGFR) | NP_001333829.1:p.Val721_Cys722insHisVal | |
| NM_001346941.1:c.1516_1521dup (EGFR) | NP_001333870.1:p.Val507_Cys508insHisVal | |
| NM_005228.4:c.2317_2322dup (EGFR) | NP_005219.2:p.Val774_Cys775insHisVal | |
| NM_005228.5:c.2317_2322dup (EGFR) MANE Select | NP_005219.2:p.Val774_Cys775insHisVal | |
| NM_001346897.2:c.2182_2187dup (EGFR) | NP_001333826.1:p.Val729_Cys730insHisVal | |
| NM_001346898.2:c.2317_2322dup (EGFR) | NP_001333827.1:p.Val774_Cys775insHisVal | |
| NM_001346900.2:c.2158_2163dup (EGFR) | NP_001333829.1:p.Val721_Cys722insHisVal | |
| NM_001346941.2:c.1516_1521dup (EGFR) | NP_001333870.1:p.Val507_Cys508insHisVal | |
| NM_001346899.2:c.2182_2187dup (EGFR) | NP_001333828.1:p.Val729_Cys730insHisVal |