Linked Data
dbSNP Id:
rs763026233
ExAC:
17:59668214 CCA / C
gnomAD v2:
17-59668214-CCA-C
gnomAD v4:
17-61590853-CCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61590854_61590855del , CM000679.2:g.61590854_61590855del | GRCh38 |
| NC_000017.10:g.59668215_59668216del , CM000679.1:g.59668215_59668216del | GRCh37 |
| NC_000017.9:g.57022997_57022998del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521764.3:c.326_327del MANE Select | ENSP00000427802.1:p.Leu109ArgfsTer? | |
| ENST00000521764.2:c.326_327del | ENSP00000427802.1:p.Leu109ArgfsTer? | |
| NM_199290.3:c.326_327del | NP_954984.1:p.Leu109ArgfsTer? | |
| NM_199290.4:c.326_327del MANE Select | NP_954984.1:p.Leu109ArgfsTer? |