Linked Data
ClinVar Variation Id:
438124
ClinVar RCV Id:
RCV000504804
dbSNP Id:
rs1557107192
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49215471_49215472del , CM000685.2:g.49215471_49215472del | GRCh38 |
| NC_000023.10:g.49071931_49071932del , CM000685.1:g.49071931_49071932del | GRCh37 |
| NC_000023.9:g.48958875_48958876del | NCBI36 |
| NG_009095.2:g.22895_22896del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323022.10:c.3308_3309del MANE Select | ENSP00000321618.6:p.Ser1103CysfsTer? | |
| ENST00000323022.9:c.3308_3309del | ENSP00000321618.5:p.Ser1103CysfsTer? | |
| ENST00000376251.5:c.3146_3147del | ENSP00000365427.1:p.Ser1049CysfsTer? | |
| ENST00000376265.2:c.3341_3342del | ENSP00000365441.2:p.Ser1114CysfsTer? | |
| NM_001256789.2:c.3308_3309del | NP_001243718.1:p.Ser1103CysfsTer? | |
| NM_001256790.2:c.3146_3147del | NP_001243719.1:p.Ser1049CysfsTer? | |
| NM_005183.3:c.3341_3342del | NP_005174.2:p.Ser1114CysfsTer? | |
| XM_011543983.1:c.3146_3147del | XP_011542285.1:p.Ser1049CysfsTer? | |
| XM_011543983.2:c.3146_3147del | XP_011542285.1:p.Ser1049CysfsTer? | |
| XM_017029836.1:c.575_576del | XP_016885325.1:p.Ser192CysfsTer? | |
| NM_001256789.3:c.3308_3309del MANE Select | NP_001243718.1:p.Ser1103CysfsTer? | |
| NM_001256790.3:c.3146_3147del | NP_001243719.1:p.Ser1049CysfsTer? | |
| NM_005183.4:c.3341_3342del | NP_005174.2:p.Ser1114CysfsTer? |