Linked Data
ClinVar Variation Id:
3016757
ClinVar RCV Id:
RCV003878892
dbSNP Id:
rs769533629
ExAC:
4:187208982 C / CA
gnomAD v2:
4-187208982-C-CA
gnomAD v4:
4-186287828-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186287829dup , CM000666.2:g.186287829dup | GRCh38 |
| NC_000004.11:g.187208983dup , CM000666.1:g.187208983dup | GRCh37 |
| NC_000004.10:g.187445977dup | NCBI36 |
| NG_008051.1:g.26866dup , LRG_583:g.26866dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.1716+6dup (F11) MANE Select | ENSP00000384957.2:n.1716+6dup | |
| ENST00000264691.4:c.316+6dup (F11) | ||
| ENST00000264692.8:c.1554+6dup (F11) | ENSP00000264692.5:n.1554+6dup | |
| ENST00000403665.6:c.1716+6dup (F11) | ENSP00000384957.2:n.1716+6dup | |
| ENST00000503841.1:n.235+6dup (F11) | ||
| NM_000128.3:c.1716+6dup , LRG_583t1:c.1716+6dup (F11) | NP_000119.1:n.1716+6dup | |
| NR_033900.1:n.1066+599dup (F11-AS1) | ||
| XM_005262821.2:c.1719+6dup (F11) | XP_005262878.1:n.1719+6dup | |
| XM_005262822.2:c.1623+6dup (F11) | XP_005262879.1:n.1623+6dup | |
| XM_005262823.2:c.1449+6dup (F11) | XP_005262880.1:n.1449+6dup | |
| XM_006714137.1:c.1671+6dup (F11) | XP_006714200.1:n.1671+6dup | |
| XM_005262821.4:c.1719+6dup (F11) | XP_005262878.1:n.1719+6dup | |
| XM_005262822.4:c.1623+6dup (F11) | XP_005262879.1:n.1623+6dup | |
| XM_005262823.4:c.1449+6dup (F11) | XP_005262880.1:n.1449+6dup | |
| XM_006714137.3:c.1671+6dup (F11) | XP_006714200.1:n.1671+6dup | |
| NM_000128.4:c.1716+6dup (F11) MANE Select | NP_000119.1:n.1716+6dup |