Linked Data
ClinVar Variation Id:
21600
ClinVar RCV Id:
RCV000020790
dbSNP Id:
rs199422172
gnomAD v2:
1-197070885-GTAATA-G
gnomAD v3:
1-197101755-GTAATA-G
gnomAD v4:
1-197101755-GTAATA-G
MyVariant Identifiers:
chr1:g.197070888_197070892del (hg19)
chr1:g.197070886_197070890del (hg19)
chr1:g.197101758_197101762del (hg38)
chr1:g.197101756_197101760del (hg38)
PubMed:
PMID:20301772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197101758_197101762del , CM000663.2:g.197101758_197101762del | GRCh38 |
| NC_000001.10:g.197070888_197070892del , CM000663.1:g.197070888_197070892del | GRCh37 |
| NC_000001.9:g.195337511_195337515del | NCBI36 |
| NG_015867.1:g.49935_49939del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367408.6:n.2108-5596_2108-5592del | ||
| ENST00000367409.9:c.7491_7495del MANE Select | ENSP00000356379.4:p.Thr2499SerfsTer18 | |
| ENST00000680265.1:c.7491_7495del | ENSP00000505384.1:p.Thr2499SerfsTer18 | |
| ENST00000680710.1:c.7491_7495del | ENSP00000506676.1:p.Thr2499SerfsTer18 | |
| ENST00000294732.11:c.4066-5596_4066-5592del | ENSP00000294732.7:n.4066-5596_4066-5592de... | |
| ENST00000367408.5:c.1816-5596_1816-5592del | ENSP00000356378.1:n.1816-5596_1816-5592de... | |
| ENST00000367409.8:c.7491_7495del | ENSP00000356379.4:p.Thr2499SerfsTer18 | |
| ENST00000612785.1:c.1449_1453del | ENSP00000479244.1:p.Thr485SerfsTer18 | |
| NM_001206846.1:c.4066-5596_4066-5592del | NP_001193775.1:n.4066-5596_4066-5592del | |
| NM_018136.4:c.7491_7495del | NP_060606.3:p.Thr2499SerfsTer18 | |
| NM_018136.5:c.7491_7495del MANE Select | NP_060606.3:p.Thr2499SerfsTer18 | |
| NM_001206846.2:c.4066-5596_4066-5592del | NP_001193775.1:n.4066-5596_4066-5592del |