Linked Data
ClinVar Variation Id:
21608
ClinVar RCV Id:
RCV000020798
dbSNP Id:
rs199422174
gnomAD v4:
1-197101389-ATC-A
PubMed:
PMID:20301772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197101391_197101392del , CM000663.2:g.197101391_197101392del | GRCh38 |
| NC_000001.10:g.197070521_197070522del , CM000663.1:g.197070521_197070522del | GRCh37 |
| NC_000001.9:g.195337144_195337145del | NCBI36 |
| NG_015867.1:g.50304_50305del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367408.6:n.2108-5227_2108-5226del | ||
| ENST00000367409.9:c.7860_7861del MANE Select | ENSP00000356379.4:p.Gln2620HisfsTer16 | |
| ENST00000680265.1:c.7860_7861del | ENSP00000505384.1:p.Gln2620HisfsTer16 | |
| ENST00000680710.1:c.7860_7861del | ENSP00000506676.1:p.Gln2620HisfsTer16 | |
| ENST00000294732.11:c.4066-5227_4066-5226del | ENSP00000294732.7:n.4066-5227_4066-5226de... | |
| ENST00000367408.5:c.1816-5227_1816-5226del | ENSP00000356378.1:n.1816-5227_1816-5226de... | |
| ENST00000367409.8:c.7860_7861del | ENSP00000356379.4:p.Gln2620HisfsTer16 | |
| ENST00000612785.1:c.1818_1819del | ENSP00000479244.1:p.Gln606HisfsTer16 | |
| NM_001206846.1:c.4066-5227_4066-5226del | NP_001193775.1:n.4066-5227_4066-5226del | |
| NM_018136.4:c.7860_7861del | NP_060606.3:p.Gln2620HisfsTer16 | |
| NM_018136.5:c.7860_7861del MANE Select | NP_060606.3:p.Gln2620HisfsTer16 | |
| NM_001206846.2:c.4066-5227_4066-5226del | NP_001193775.1:n.4066-5227_4066-5226del |