Linked Data
ClinVar Variation Id:
17010
ClinVar RCV Id:
RCV000018534
RCV000146010
RCV000211757
RCV000255988
RCV000291910
RCV000346888
RCV000409300
RCV000477920
RCV000678869
RCV000844699
RCV001004395
RCV002227040
RCV002504803
RCV002513103
RCV002470713
dbSNP Id:
rs80338942
ExAC:
13:20763553 CA / C
gnomAD v2:
13-20763553-CA-C
gnomAD v3:
13-20189414-CA-C
gnomAD v4:
13-20189414-CA-C
MyVariant Identifiers:
chr13:g.20763554del (hg19)
chr13:g.20763554delA (hg19)
chr13:g.20189415del (hg38)
PubMed:
PMID:9285800
PMID:9819448
PMID:10508996
PMID:10903123
PMID:10982182
PMID:11074495
PMID:11386851
PMID:11668644
PMID:11935342
PMID:15547683
PMID:15967879
PMID:16380907
PMID:17666888
PMID:19125024
PMID:20301449
PMID:20739944
PMID:22785241
PMID:23891399
PMID:24529908
PMID:26096904
PMID:26236732
ERepo:
CA172217/MONDO:0019497/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189415del , CM000675.2:g.20189415del | GRCh38 |
| NC_000013.10:g.20763554del , CM000675.1:g.20763554del | GRCh37 |
| NC_000013.9:g.19661554del | NCBI36 |
| NG_008358.1:g.8561del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.167del | ENSP00000372295.1:p.Leu56ArgfsTer26 | |
| ENST00000382848.5:c.167del MANE Select | ENSP00000372299.4:p.Leu56ArgfsTer26 | |
| ENST00000382844.1:c.167del | ENSP00000372295.1:p.Leu56ArgfsTer26 | |
| ENST00000382848.4:c.167del | ENSP00000372299.4:p.Leu56ArgfsTer26 | |
| NM_004004.5:c.167del | NP_003995.2:p.Leu56ArgfsTer26 | |
| XM_011535049.1:c.167del | XP_011533351.1:p.Leu56ArgfsTer26 | |
| XM_011535049.2:c.167del | XP_011533351.1:p.Leu56ArgfsTer26 | |
| NM_004004.6:c.167del MANE Select | NP_003995.2:p.Leu56ArgfsTer26 |