Linked Data
ClinVar Variation Id:
17014
ClinVar RCV Id:
RCV000018539
RCV000018538
RCV000146011
RCV000255303
RCV000211768
RCV000410166
RCV000490501
RCV000678874
RCV000844630
RCV001004392
RCV002286401
RCV002496402
RCV003313925
RCV004528121
dbSNP Id:
rs80338943
ExAC:
13:20763485 AG / A
gnomAD v2:
13-20763485-AG-A
gnomAD v3:
13-20189346-AG-A
gnomAD v4:
13-20189346-AG-A
COSMIC:
COSM2265391
MyVariant Identifiers:
chr13:g.20763486del (hg19)
chr13:g.20763486delG (hg19)
chr13:g.20189347del (hg38)
ERepo:
CA127025/MONDO:0019497/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189349del , CM000675.2:g.20189349del | GRCh38 |
| NC_000013.10:g.20763488del , CM000675.1:g.20763488del | GRCh37 |
| NC_000013.9:g.19661488del | NCBI36 |
| NG_008358.1:g.8629del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.235del | ENSP00000372295.1:p.Leu79CysfsTer3 | |
| ENST00000382848.5:c.235del MANE Select | ENSP00000372299.4:p.Leu79CysfsTer3 | |
| ENST00000382844.1:c.235del | ENSP00000372295.1:p.Leu79CysfsTer3 | |
| ENST00000382848.4:c.235del | ENSP00000372299.4:p.Leu79CysfsTer3 | |
| NM_004004.5:c.235del | NP_003995.2:p.Leu79CysfsTer3 | |
| XM_011535049.1:c.235del | XP_011533351.1:p.Leu79CysfsTer3 | |
| XM_011535049.2:c.235del | XP_011533351.1:p.Leu79CysfsTer3 | |
| NM_004004.6:c.235del MANE Select | NP_003995.2:p.Leu79CysfsTer3 |