Linked Data
ClinVar Variation Id:
374903
ClinVar RCV Id:
RCV000415610
dbSNP Id:
rs1057519426
MyVariant Identifiers:
chr18:g.10794976_10794978delinsTTCG (hg19)
chr18:g.10794978_10794980delinsTTCG (hg38)
PubMed:
PMID:27843126
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.10794978_10794980delinsTTCG , CM000680.2:g.10794978_10794980delinsTTCG | GRCh38 |
| NC_000018.9:g.10794976_10794978delinsTTCG , CM000680.1:g.10794976_10794978delinsTTCG | GRCh37 |
| NC_000018.8:g.10784976_10784978delinsTTCG | NCBI36 |
| NG_034005.1:g.358783_358785delinsCGAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000383408.7:c.1550_1552delinsCGAA | ENSP00000372900.4:p.Ser517ThrfsTer? | |
| ENST00000686869.1:n.1607_1609delinsCGAA | ||
| ENST00000674853.1:c.1550_1552delinsCGAA MANE Select | ENSP00000501957.1:p.Ser517ThrfsTer? | |
| ENST00000302079.10:c.1550_1552delinsCGAA | ENSP00000303316.6:p.Ser517ThrfsTer? | |
| ENST00000383408.6:c.1397_1399delinsCGAA | ENSP00000372900.3:p.Ser466ThrfsTer? | |
| ENST00000503781.7:c.1550_1552delinsCGAA | ENSP00000421377.3:p.Ser517ThrfsTer? | |
| ENST00000580640.5:c.1550_1552delinsCGAA | ENSP00000463094.1:p.Ser517ThrfsTer? | |
| ENST00000582913.5:c.1550_1552delinsCGAA | ENSP00000462115.1:p.Ser517ThrfsTer? | |
| NM_022068.3:c.1550_1552delinsCGAA | NP_071351.2:p.Ser517ThrfsTer? | |
| XM_011525723.1:c.1550_1552delinsCGAA | XP_011524025.1:p.Ser517ThrfsTer? | |
| XM_011525724.1:c.1550_1552delinsCGAA | XP_011524026.1:p.Ser517ThrfsTer? | |
| XM_011525725.1:c.1550_1552delinsCGAA | XP_011524027.1:p.Ser517ThrfsTer? | |
| XM_011525726.1:c.1550_1552delinsCGAA | XP_011524028.1:p.Ser517ThrfsTer? | |
| XM_011525727.1:c.1550_1552delinsCGAA | XP_011524029.1:p.Ser517ThrfsTer? | |
| XM_011525723.3:c.1550_1552delinsCGAA | XP_011524025.1:p.Ser517ThrfsTer? | |
| XM_011525724.3:c.1550_1552delinsCGAA | XP_011524026.1:p.Ser517ThrfsTer? | |
| XM_011525725.3:c.1550_1552delinsCGAA | XP_011524027.1:p.Ser517ThrfsTer? | |
| XM_011525726.3:c.1550_1552delinsCGAA | XP_011524028.1:p.Ser517ThrfsTer? | |
| XM_017025918.2:c.1511_1513delinsCGAA | XP_016881407.1:p.Ser504ThrfsTer? | |
| XR_001753259.2:n.2547_2549delinsCGAA | ||
| NM_001378183.1:c.1550_1552delinsCGAA MANE Select | NP_001365112.1:p.Ser517ThrfsTer? | |
| NM_022068.4:c.1550_1552delinsCGAA | NP_071351.2:p.Ser517ThrfsTer? |