Linked Data
dbSNP Id:
rs1266748640
gnomAD v2:
4-187209238-TTTTAG-T
gnomAD v3:
4-186288084-TTTTAG-T
gnomAD v4:
4-186288084-TTTTAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186288088_186288092del , CM000666.2:g.186288088_186288092del | GRCh38 |
| NC_000004.11:g.187209242_187209246del , CM000666.1:g.187209242_187209246del | GRCh37 |
| NC_000004.10:g.187446236_187446240del | NCBI36 |
| NG_008051.1:g.27125_27129del , LRG_583:g.27125_27129del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1716+265_1716+269del (F11) MANE Select | ENSP00000384957.2:n.1716+265_1716+269del | |
| ENST00000264691.4:c.316+265_316+269del (F11) | ||
| ENST00000264692.8:c.1554+265_1554+269del (F11) | ENSP00000264692.5:n.1554+265_1554+269del | |
| ENST00000403665.6:c.1716+265_1716+269del (F11) | ENSP00000384957.2:n.1716+265_1716+269del | |
| ENST00000503841.1:n.235+265_235+269del (F11) | ||
| NM_000128.3:c.1716+265_1716+269del , LRG_583t1:c.1716+265_1716+269del (F11) | NP_000119.1:n.1716+265_1716+269del | |
| NR_033900.1:n.1066+339_1066+343del (F11-AS1) | ||
| XM_005262821.2:c.1719+265_1719+269del (F11) | XP_005262878.1:n.1719+265_1719+269del | |
| XM_005262822.2:c.1623+265_1623+269del (F11) | XP_005262879.1:n.1623+265_1623+269del | |
| XM_005262823.2:c.1449+265_1449+269del (F11) | XP_005262880.1:n.1449+265_1449+269del | |
| XM_006714137.1:c.1671+265_1671+269del (F11) | XP_006714200.1:n.1671+265_1671+269del | |
| XM_005262821.4:c.1719+265_1719+269del (F11) | XP_005262878.1:n.1719+265_1719+269del | |
| XM_005262822.4:c.1623+265_1623+269del (F11) | XP_005262879.1:n.1623+265_1623+269del | |
| XM_005262823.4:c.1449+265_1449+269del (F11) | XP_005262880.1:n.1449+265_1449+269del | |
| XM_006714137.3:c.1671+265_1671+269del (F11) | XP_006714200.1:n.1671+265_1671+269del | |
| NM_000128.4:c.1716+265_1716+269del (F11) MANE Select | NP_000119.1:n.1716+265_1716+269del |