Linked Data
dbSNP Id:
rs1834581242
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133256269del , CM000671.2:g.133256269del | GRCh38 |
| NC_000009.11:g.136131656del , CM000671.1:g.136131656del | GRCh37 |
| NC_000009.10:g.135121477del | NCBI36 |
| NG_006669.1:g.21400del | |
| NG_006669.2:g.23948del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.492del | ||
| ENST00000647353.1:n.54-5116del | ||
| ENST00000651471.1:n.418del | ||
| ENST00000679909.1:c.28+18894del | ENSP00000506089.1:n.28+18894del | |
| ENST00000453660.3:n.474del | ||
| ENST00000538324.2:c.460del | ENSP00000483018.1:p.Gln154SerfsTer8 | |
| ENST00000611156.4:c.460del | ENSP00000483265.1:p.Gln154SerfsTer8 | |
| NM_020469.2:c.463del | NP_065202.2:p.Gln155SerfsTer8 | |
| NM_020469.3:c.463del | NP_065202.2:p.Gln155SerfsTer8 |