Linked Data
ClinVar Variation Id:
551307
ClinVar RCV Id:
RCV000666334
dbSNP Id:
rs1555203363
MyVariant Identifiers:
chr12:g.102840421_102840422del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840422_102840423del , CM000674.2:g.102840422_102840423del | GRCh38 |
| NC_000012.11:g.103234200_103234201del , CM000674.1:g.103234200_103234201del | GRCh37 |
| NC_000012.10:g.101758330_101758331del | NCBI36 |
| NG_008690.1:g.82181_82182del | |
| NG_008690.2:g.122989_122990del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.1293_1294del MANE Select | ENSP00000448059.1:p.Lys431AsnfsTer4 | |
| ENST00000307000.7:c.1278_1279del | ENSP00000303500.2:p.Lys426AsnfsTer4 | |
| ENST00000551114.2:n.955_956del | ||
| ENST00000553106.5:c.1293_1294del | ENSP00000448059.1:p.Lys431AsnfsTer4 | |
| ENST00000635477.1:c.397_398del | ||
| ENST00000635528.1:n.808_809del | ||
| NM_000277.1:c.1293_1294del | NP_000268.1:p.Lys431AsnfsTer4 | |
| XM_011538422.1:c.1236_1237del | XP_011536724.1:p.Lys412AsnfsTer4 | |
| NM_000277.2:c.1293_1294del | NP_000268.1:p.Lys431AsnfsTer4 | |
| NM_001354304.1:c.1293_1294del | NP_001341233.1:p.Lys431AsnfsTer4 | |
| NM_000277.3:c.1293_1294del MANE Select | NP_000268.1:p.Lys431AsnfsTer4 | |
| NM_001354304.2:c.1293_1294del | NP_001341233.1:p.Lys431AsnfsTer4 |