Linked Data
dbSNP Id:
rs1394592536
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255456_133255459del , CM000671.2:g.133255456_133255459del | GRCh38 |
| NC_000009.11:g.136130843_136130846del , CM000671.1:g.136130843_136130846del | GRCh37 |
| NC_000009.10:g.135120664_135120667del | NCBI36 |
| NG_006669.1:g.22212_22215del | |
| NG_006669.2:g.24760_24763del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1304_1307del | ||
| ENST00000647353.1:n.54-4304_54-4301del | ||
| ENST00000679909.1:c.28+19706_28+19709del | ENSP00000506089.1:n.28+19706_28+19709del | |
| ENST00000453660.3:n.1286_1289del | ||
| ENST00000611156.4:c.*210_*213del | ENSP00000483265.1:n.*210_*213del | |
| NM_020469.2:c.*210_*213del | NP_065202.2:n.*210_*213del | |
| NM_020469.3:c.*210_*213del | NP_065202.2:n.*210_*213del |