Linked Data
ClinVar Variation Id:
2682058
ClinVar RCV Id:
RCV003477350
COSMIC:
COSM5822
MyVariant Identifiers:
chr10:g.89717713del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87957956del , CM000672.2:g.87957956del | GRCh38 |
| NC_000010.10:g.89717713del , CM000672.1:g.89717713del | GRCh37 |
| NC_000010.9:g.89707693del | NCBI36 |
| NG_007466.2:g.99518del , LRG_311:g.99518del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.738del | ENSP00000514759.2:p.Leu247TyrfsTer9 | |
| ENST00000710265.1:c.738del | ENSP00000518161.1:p.Leu247TyrfsTer9 | |
| ENST00000472832.3:c.738del | ENSP00000483066.2:p.Leu247TyrfsTer9 | |
| ENST00000688158.2:n.1473del | ||
| ENST00000688922.2:c.*568del | ENSP00000508742.2:n.*568del | |
| ENST00000700021.1:c.693del | ENSP00000514757.1:p.Leu232TyrfsTer9 | |
| ENST00000700022.1:c.*77del | ENSP00000514758.1:n.*77del | |
| ENST00000700023.1:n.1896del | ||
| ENST00000700024.1:n.2130del | ||
| ENST00000700025.1:n.1507del | ||
| ENST00000700026.1:n.375del | ||
| ENST00000700029.1:c.572del | ||
| ENST00000706954.1:c.738del | ENSP00000516674.1:p.Leu247TyrfsTer9 | |
| ENST00000706955.1:c.*773del | ENSP00000516675.1:n.*773del | |
| ENST00000686459.1:c.*324del | ENSP00000508909.1:n.*324del | |
| ENST00000688158.1:c.*849del | ENSP00000509254.1:n.*849del | |
| ENST00000688308.1:c.738del | ENSP00000508752.1:p.Leu247TyrfsTer9 | |
| ENST00000688922.1:c.659del | ||
| ENST00000693560.1:c.1257del | ENSP00000509861.1:p.Leu420TyrfsTer9 | |
| ENST00000371953.8:c.738del MANE Select | ENSP00000361021.3:p.Leu247TyrfsTer9 | |
| ENST00000371953.7:c.738del | ENSP00000361021.3:p.Leu247TyrfsTer9 | |
| ENST00000472832.2:c.165del | ENSP00000483066.1:p.Leu56TyrfsTer9 | |
| NM_000314.5:c.738del | NP_000305.3:p.Leu247TyrfsTer9 | |
| NM_000314.6:c.738del | NP_000305.3:p.Leu247TyrfsTer9 | |
| NM_001304717.2:c.1257del | NP_001291646.2:p.Leu420TyrfsTer9 | |
| NM_001304718.1:c.147del | NP_001291647.1:p.Leu50TyrfsTer9 | |
| XM_006717926.2:c.693del | XP_006717989.1:p.Leu232TyrfsTer9 | |
| XM_011539981.1:c.738del | XP_011538283.1:p.Leu247TyrfsTer9 | |
| XM_011539982.1:c.642del | XP_011538284.1:p.Leu215TyrfsTer9 | |
| XR_945791.1:n.1308del | ||
| NM_000314.7:c.738del | NP_000305.3:p.Leu247TyrfsTer9 | |
| NM_001304717.5:c.1257del | NP_001291646.4:p.Leu420TyrfsTer9 | |
| NM_001304718.2:c.147del | NP_001291647.1:p.Leu50TyrfsTer9 | |
| NM_000314.8:c.738del MANE Select | NP_000305.3:p.Leu247TyrfsTer9 |