Linked Data
ClinVar Variation Id:
188974
ClinVar RCV Id:
RCV000169352
dbSNP Id:
rs786204598
gnomAD v2:
9-104192245-GTACC-G
gnomAD v3:
9-101429963-GTACC-G
gnomAD v4:
9-101429963-GTACC-G
PubMed:
PMID:2349937
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101429966_101429969del , CM000671.2:g.101429966_101429969del | GRCh38 |
| NC_000009.11:g.104192248_104192251del , CM000671.1:g.104192248_104192251del | GRCh37 |
| NC_000009.10:g.103232069_103232072del | NCBI36 |
| NG_012387.1:g.10814_10817del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647789.2:c.113-1_115del | ||
| ENST00000648064.1:c.113-1_115del | ||
| ENST00000648423.1:c.113-1_115del | ||
| ENST00000648758.1:c.113-1_115del | ||
| ENST00000648906.1:n.283-1_285del | ||
| ENST00000649902.1:c.113-1_115del | ||
| ENST00000650613.1:n.189-1_191del | ||
| ENST00000374855.8:c.113-1_115del | ||
| ENST00000616752.1:c.113-1_115del | ||
| NM_000035.3:c.113-1_115del | ||
| NM_000035.4:c.113-1_115del |