Linked Data
ClinVar Variation Id:
426472
ClinVar RCV Id:
RCV000489658
dbSNP Id:
rs1085307641
COSMIC:
COSM1474813
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.8073889_8073890del , CM000672.2:g.8073889_8073890del | GRCh38 |
| NC_000010.10:g.8115852_8115853del , CM000672.1:g.8115852_8115853del | GRCh37 |
| NC_000010.9:g.8155858_8155859del | NCBI36 |
| NG_015859.1:g.24186_24187del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000346208.4:c.1198_1199del | ENSP00000341619.3:p.Met400ValfsTer? | |
| ENST00000379328.9:c.1201_1202del MANE Select | ENSP00000368632.3:p.Met401ValfsTer? | |
| ENST00000346208.3:c.1198_1199del | ENSP00000341619.3:p.Met400ValfsTer? | |
| ENST00000379328.7:c.1201_1202del | ENSP00000368632.3:p.Met401ValfsTer? | |
| ENST00000461472.1:n.720_721del | ||
| NM_001002295.1:c.1201_1202del | NP_001002295.1:p.Met401ValfsTer? | |
| NM_002051.2:c.1198_1199del | NP_002042.1:p.Met400ValfsTer? | |
| XM_005252442.2:c.1201_1202del | XP_005252499.1:p.Met401ValfsTer? | |
| XM_005252443.3:c.1201_1202del | XP_005252500.1:p.Met401ValfsTer? | |
| XM_005252443.5:c.1201_1202del | XP_005252500.1:p.Met401ValfsTer? | |
| NM_001002295.2:c.1201_1202del MANE Select | NP_001002295.1:p.Met401ValfsTer? | |
| NM_002051.3:c.1198_1199del | NP_002042.1:p.Met400ValfsTer? |