Linked Data
ClinVar Variation Id:
370664
ClinVar RCV Id:
RCV000409496
dbSNP Id:
rs1057516669
gnomAD v4:
12-76346316-TTTCTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76346324_76346328del , CM000674.2:g.76346324_76346328del | GRCh38 |
| NC_000012.11:g.76740104_76740108del , CM000674.1:g.76740104_76740108del | GRCh37 |
| NC_000012.10:g.75264235_75264239del | NCBI36 |
| NG_016357.1:g.7122_7126del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650064.2:c.1664_1668del MANE Select | ENSP00000497413.1:p.Ile555AsnfsTer13 | |
| ENST00000393262.3:c.1664_1668del | ENSP00000376946.3:p.Ile555AsnfsTer13 | |
| NM_024685.3:c.1664_1668del | NP_078961.3:p.Ile555AsnfsTer13 | |
| NM_024685.4:c.1664_1668del MANE Select | NP_078961.3:p.Ile555AsnfsTer13 |