Linked Data
dbSNP Id:
rs917605898
gnomAD v3:
4-186288121-CCAGGATGGT-C
gnomAD v4:
4-186288121-CCAGGATGGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186288123_186288131del , CM000666.2:g.186288123_186288131del | GRCh38 |
| NC_000004.11:g.187209277_187209285del , CM000666.1:g.187209277_187209285del | GRCh37 |
| NC_000004.10:g.187446271_187446279del | NCBI36 |
| NG_008051.1:g.27160_27168del , LRG_583:g.27160_27168del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1716+300_1716+308del (F11) MANE Select | ENSP00000384957.2:n.1716+300_1716+308del | |
| ENST00000264691.4:c.316+300_316+308del (F11) | ||
| ENST00000264692.8:c.1554+300_1554+308del (F11) | ENSP00000264692.5:n.1554+300_1554+308del | |
| ENST00000403665.6:c.1716+300_1716+308del (F11) | ENSP00000384957.2:n.1716+300_1716+308del | |
| ENST00000503841.1:n.235+300_235+308del (F11) | ||
| NM_000128.3:c.1716+300_1716+308del , LRG_583t1:c.1716+300_1716+308del (F11) | NP_000119.1:n.1716+300_1716+308del | |
| NR_033900.1:n.1066+298_1066+306del (F11-AS1) | ||
| XM_005262821.2:c.1719+300_1719+308del (F11) | XP_005262878.1:n.1719+300_1719+308del | |
| XM_005262822.2:c.1623+300_1623+308del (F11) | XP_005262879.1:n.1623+300_1623+308del | |
| XM_005262823.2:c.1449+300_1449+308del (F11) | XP_005262880.1:n.1449+300_1449+308del | |
| XM_006714137.1:c.1671+300_1671+308del (F11) | XP_006714200.1:n.1671+300_1671+308del | |
| XM_005262821.4:c.1719+300_1719+308del (F11) | XP_005262878.1:n.1719+300_1719+308del | |
| XM_005262822.4:c.1623+300_1623+308del (F11) | XP_005262879.1:n.1623+300_1623+308del | |
| XM_005262823.4:c.1449+300_1449+308del (F11) | XP_005262880.1:n.1449+300_1449+308del | |
| XM_006714137.3:c.1671+300_1671+308del (F11) | XP_006714200.1:n.1671+300_1671+308del | |
| NM_000128.4:c.1716+300_1716+308del (F11) MANE Select | NP_000119.1:n.1716+300_1716+308del |