Linked Data
dbSNP Id:
rs761319072
gnomAD v2:
4-187208887-C-CGAAGAGTGCCAGAAGAGATA
gnomAD v4:
4-186287733-C-CGAAGAGTGCCAGAAGAGATA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186287734_186287753dup , CM000666.2:g.186287734_186287753dup | GRCh38 |
| NC_000004.11:g.187208888_187208907dup , CM000666.1:g.187208888_187208907dup | GRCh37 |
| NC_000004.10:g.187445882_187445901dup | NCBI36 |
| NG_008051.1:g.26771_26790dup , LRG_583:g.26771_26790dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.1627_1646dup (F11) MANE Select | ENSP00000384957.2:p.Tyr549Ter | |
| ENST00000264691.4:c.227_246dup (F11) | ||
| ENST00000264692.8:c.1465_1484dup (F11) | ENSP00000264692.5:p.Tyr495Ter | |
| ENST00000403665.6:c.1627_1646dup (F11) | ENSP00000384957.2:p.Tyr549Ter | |
| ENST00000503841.1:n.146_165dup (F11) | ||
| NM_000128.3:c.1627_1646dup , LRG_583t1:c.1627_1646dup (F11) | NP_000119.1:p.Tyr549Ter | |
| NR_033900.1:n.1066+675_1066+694dup (F11-AS1) | ||
| XM_005262821.2:c.1630_1649dup (F11) | XP_005262878.1:p.Tyr550Ter | |
| XM_005262822.2:c.1534_1553dup (F11) | XP_005262879.1:p.Tyr518Ter | |
| XM_005262823.2:c.1360_1379dup (F11) | XP_005262880.1:p.Tyr460Ter | |
| XM_006714137.1:c.1582_1601dup (F11) | XP_006714200.1:p.Tyr534Ter | |
| XR_938707.1:n.1939_1958dup (F11) | ||
| XM_005262821.4:c.1630_1649dup (F11) | XP_005262878.1:p.Tyr550Ter | |
| XM_005262822.4:c.1534_1553dup (F11) | XP_005262879.1:p.Tyr518Ter | |
| XM_005262823.4:c.1360_1379dup (F11) | XP_005262880.1:p.Tyr460Ter | |
| XM_006714137.3:c.1582_1601dup (F11) | XP_006714200.1:p.Tyr534Ter | |
| NM_000128.4:c.1627_1646dup (F11) MANE Select | NP_000119.1:p.Tyr549Ter |