Linked Data
ClinVar Variation Id:
141411
ClinVar RCV Id:
RCV000129917
dbSNP Id:
rs587777580
ExAC:
4:81188136 CTA / C
gnomAD v2:
4-81188136-CTA-C
gnomAD v3:
4-80266982-CTA-C
gnomAD v4:
4-80266982-CTA-C
MyVariant Identifiers:
chr4:g.81188138_81188139del (hg19)
chr4:g.81188137_81188138del (hg19)
chr4:g.80266984_80266985del (hg38)
chr4:g.80266983_80266984del (hg38)
PubMed:
PMID:24989505
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80266984_80266985del , CM000666.2:g.80266984_80266985del | GRCh38 |
| NC_000004.11:g.81188138_81188139del , CM000666.1:g.81188138_81188139del | GRCh37 |
| NC_000004.10:g.81407162_81407163del | NCBI36 |
| NG_029501.1:g.5397_5398del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312465.12:c.160_161del MANE Select | ENSP00000311697.7:p.Met54ValfsTer? | |
| ENST00000312465.11:c.160_161del | ENSP00000311697.7:p.Met54ValfsTer? | |
| ENST00000380628.3:n.160_161del | ||
| ENST00000456523.3:c.160_161del | ENSP00000398353.3:p.Met54ValfsTer? | |
| ENST00000507780.1:c.43_44del | ENSP00000423903.1:p.Met15ValfsTer? | |
| NM_004464.3:c.160_161del | NP_004455.2:p.Met54ValfsTer? | |
| NM_033143.2:c.160_161del | NP_149134.1:p.Met54ValfsTer? | |
| NM_004464.4:c.160_161del MANE Select | NP_004455.2:p.Met54ValfsTer? |