Linked Data
dbSNP Id:
rs879476012
gnomAD v2:
17-28548434-TCACA-T
gnomAD v3:
17-30221416-TCACA-T
gnomAD v4:
17-30221416-TCACA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30221417_30221420del , CM000679.2:g.30221417_30221420del | GRCh38 |
| NC_000017.10:g.28548435_28548438del , CM000679.1:g.28548435_28548438del | GRCh37 |
| NC_000017.9:g.25572561_25572564del | NCBI36 |
| NG_011747.2:g.19517_19520del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650711.1:c.343+196_343+199del MANE Select | ENSP00000498537.1:n.343+196_343+199del | |
| ENST00000261707.7:c.343+196_343+199del | ENSP00000261707.3:n.343+196_343+199del | |
| ENST00000394821.2:c.343+196_343+199del | ENSP00000378298.2:n.343+196_343+199del | |
| ENST00000401766.6:c.343+196_343+199del | ENSP00000385822.2:n.343+196_343+199del | |
| NM_001045.5:c.343+196_343+199del | NP_001036.1:n.343+196_343+199del | |
| NM_001045.6:c.343+196_343+199del MANE Select | NP_001036.1:n.343+196_343+199del |