Linked Data
ClinVar Variation Id:
550369
ClinVar RCV Id:
RCV000665098
dbSNP Id:
rs1554084031
MyVariant Identifiers:
chr4:g.186287727_186287728dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186287727_186287728dup , CM000666.2:g.186287727_186287728dup | GRCh38 |
| NC_000004.11:g.187208881_187208882dup , CM000666.1:g.187208881_187208882dup | GRCh37 |
| NC_000004.10:g.187445875_187445876dup | NCBI36 |
| NG_008051.1:g.26764_26765dup , LRG_583:g.26764_26765dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.1620_1621dup (F11) MANE Select | ENSP00000384957.2:p.Thr541ArgfsTer15 | |
| ENST00000264691.4:c.220_221dup (F11) | ||
| ENST00000264692.8:c.1458_1459dup (F11) | ENSP00000264692.5:p.Thr487ArgfsTer15 | |
| ENST00000403665.6:c.1620_1621dup (F11) | ENSP00000384957.2:p.Thr541ArgfsTer15 | |
| ENST00000503841.1:n.139_140dup (F11) | ||
| NM_000128.3:c.1620_1621dup , LRG_583t1:c.1620_1621dup (F11) | NP_000119.1:p.Thr541ArgfsTer15 | |
| NR_033900.1:n.1066+700_1066+701dup (F11-AS1) | ||
| XM_005262821.2:c.1623_1624dup (F11) | XP_005262878.1:p.Thr542ArgfsTer15 | |
| XM_005262822.2:c.1527_1528dup (F11) | XP_005262879.1:p.Thr510ArgfsTer15 | |
| XM_005262823.2:c.1353_1354dup (F11) | XP_005262880.1:p.Thr452ArgfsTer15 | |
| XM_006714137.1:c.1575_1576dup (F11) | XP_006714200.1:p.Thr526ArgfsTer15 | |
| XR_938707.1:n.1932_1933dup (F11) | ||
| XM_005262821.4:c.1623_1624dup (F11) | XP_005262878.1:p.Thr542ArgfsTer15 | |
| XM_005262822.4:c.1527_1528dup (F11) | XP_005262879.1:p.Thr510ArgfsTer15 | |
| XM_005262823.4:c.1353_1354dup (F11) | XP_005262880.1:p.Thr452ArgfsTer15 | |
| XM_006714137.3:c.1575_1576dup (F11) | XP_006714200.1:p.Thr526ArgfsTer15 | |
| NM_000128.4:c.1620_1621dup (F11) MANE Select | NP_000119.1:p.Thr541ArgfsTer15 |