Linked Data
ClinVar Variation Id:
193082
dbSNP Id:
rs572454921
gnomAD v2:
13-48878084-CGCCGCCGCT-C
gnomAD v3:
13-48303948-CGCCGCCGCT-C
gnomAD v4:
13-48303948-CGCCGCCGCT-C
MyVariant Identifiers:
chr13:g.48878093_48878101del (hg19)
chr13:g.48878085_48878093del (hg19)
chr13:g.48878093_48878101delTGCCGCCGC (hg19)
chr13:g.48303957_48303965del (hg38)
chr13:g.48303950_48303958del (hg38)
chr13:g.48303949_48303957del (hg38)
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48303957_48303965del , CM000675.2:g.48303957_48303965del | GRCh38 |
| NC_000013.10:g.48878093_48878101del , CM000675.1:g.48878093_48878101del | GRCh37 |
| NC_000013.9:g.47776094_47776102del | NCBI36 |
| NG_009009.1:g.5211_5219del , LRG_517:g.5211_5219del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.45_53del MANE Select | ENSP00000267163.4:p.Ala16_Ala18del | |
| ENST00000646097.1:c.45_53del | ENSP00000496556.1:p.Ala16_Ala18del | |
| ENST00000650461.1:c.45_53del | ENSP00000497193.1:p.Ala16_Ala18del | |
| ENST00000267163.4:c.45_53del | ENSP00000267163.4:p.Ala16_Ala18del | |
| ENST00000467505.5:c.45_53del | ENSP00000434702.1:p.Ala16_Ala18del | |
| ENST00000525036.1:n.207_215del | ||
| NM_000321.2:c.45_53del , LRG_517t1:c.45_53del | NP_000312.2:p.Ala16_Ala18del | |
| NM_000321.3:c.45_53del MANE Select | NP_000312.2:p.Ala16_Ala18del |