Linked Data
ClinVar Variation Id:
2673920
ClinVar RCV Id:
RCV003450534
COSMIC:
COSM5863
MyVariant Identifiers:
chr10:g.89720669del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87960912del , CM000672.2:g.87960912del | GRCh38 |
| NC_000010.10:g.89720669del , CM000672.1:g.89720669del | GRCh37 |
| NC_000010.9:g.89710649del | NCBI36 |
| NG_007466.2:g.102474del , LRG_311:g.102474del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.913del | ENSP00000514759.2:p.Trp305GlyfsTer2 | |
| ENST00000710265.1:c.820del | ENSP00000518161.1:p.Trp274GlyfsTer2 | |
| ENST00000472832.3:c.820del | ENSP00000483066.2:p.Trp274GlyfsTer2 | |
| ENST00000688158.2:n.1555del | ||
| ENST00000688922.2:c.*650del | ENSP00000508742.2:n.*650del | |
| ENST00000700021.1:c.775del | ENSP00000514757.1:p.Trp259GlyfsTer2 | |
| ENST00000700022.1:c.*159del | ENSP00000514758.1:n.*159del | |
| ENST00000700023.1:n.1978del | ||
| ENST00000700024.1:n.2212del | ||
| ENST00000700025.1:n.1589del | ||
| ENST00000700026.1:n.457del | ||
| ENST00000700029.1:c.747del | ||
| ENST00000706954.1:c.820del | ENSP00000516674.1:p.Trp274GlyfsTer2 | |
| ENST00000706955.1:c.*855del | ENSP00000516675.1:n.*855del | |
| ENST00000686459.1:c.*406del | ENSP00000508909.1:n.*406del | |
| ENST00000688158.1:c.*931del | ENSP00000509254.1:n.*931del | |
| ENST00000688308.1:c.820del | ENSP00000508752.1:p.Trp274GlyfsTer2 | |
| ENST00000688922.1:c.741del | ||
| ENST00000693560.1:c.1339del | ENSP00000509861.1:p.Trp447GlyfsTer2 | |
| ENST00000371953.8:c.820del MANE Select | ENSP00000361021.3:p.Trp274GlyfsTer2 | |
| ENST00000371953.7:c.820del | ENSP00000361021.3:p.Trp274GlyfsTer2 | |
| ENST00000472832.2:c.247del | ENSP00000483066.1:p.Trp83GlyfsTer2 | |
| NM_000314.5:c.820del | NP_000305.3:p.Trp274GlyfsTer2 | |
| NM_000314.6:c.820del | NP_000305.3:p.Trp274GlyfsTer2 | |
| NM_001304717.2:c.1339del | NP_001291646.2:p.Trp447GlyfsTer2 | |
| NM_001304718.1:c.229del | NP_001291647.1:p.Trp77GlyfsTer2 | |
| XM_006717926.2:c.775del | XP_006717989.1:p.Trp259GlyfsTer2 | |
| XM_011539981.1:c.820del | XP_011538283.1:p.Trp274GlyfsTer2 | |
| XM_011539982.1:c.724del | XP_011538284.1:p.Trp242GlyfsTer2 | |
| XR_945791.1:n.1390del | ||
| NM_000314.7:c.820del | NP_000305.3:p.Trp274GlyfsTer2 | |
| NM_001304717.5:c.1339del | NP_001291646.4:p.Trp447GlyfsTer2 | |
| NM_001304718.2:c.229del | NP_001291647.1:p.Trp77GlyfsTer2 | |
| NM_000314.8:c.820del MANE Select | NP_000305.3:p.Trp274GlyfsTer2 |