Linked Data
dbSNP Id:
rs140874355
gnomAD v2:
4-187209229-CTT-C
gnomAD v3:
4-186288075-CTT-C
gnomAD v4:
4-186288075-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186288086_186288087del , CM000666.2:g.186288086_186288087del | GRCh38 |
| NC_000004.11:g.187209240_187209241del , CM000666.1:g.187209240_187209241del | GRCh37 |
| NC_000004.10:g.187446234_187446235del | NCBI36 |
| NG_008051.1:g.27123_27124del , LRG_583:g.27123_27124del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1716+263_1716+264del (F11) MANE Select | ENSP00000384957.2:n.1716+263_1716+264del | |
| ENST00000264691.4:c.316+263_316+264del (F11) | ||
| ENST00000264692.8:c.1554+263_1554+264del (F11) | ENSP00000264692.5:n.1554+263_1554+264del | |
| ENST00000403665.6:c.1716+263_1716+264del (F11) | ENSP00000384957.2:n.1716+263_1716+264del | |
| ENST00000503841.1:n.235+263_235+264del (F11) | ||
| NM_000128.3:c.1716+263_1716+264del , LRG_583t1:c.1716+263_1716+264del (F11) | NP_000119.1:n.1716+263_1716+264del | |
| NR_033900.1:n.1066+351_1066+352del (F11-AS1) | ||
| XM_005262821.2:c.1719+263_1719+264del (F11) | XP_005262878.1:n.1719+263_1719+264del | |
| XM_005262822.2:c.1623+263_1623+264del (F11) | XP_005262879.1:n.1623+263_1623+264del | |
| XM_005262823.2:c.1449+263_1449+264del (F11) | XP_005262880.1:n.1449+263_1449+264del | |
| XM_006714137.1:c.1671+263_1671+264del (F11) | XP_006714200.1:n.1671+263_1671+264del | |
| XM_005262821.4:c.1719+263_1719+264del (F11) | XP_005262878.1:n.1719+263_1719+264del | |
| XM_005262822.4:c.1623+263_1623+264del (F11) | XP_005262879.1:n.1623+263_1623+264del | |
| XM_005262823.4:c.1449+263_1449+264del (F11) | XP_005262880.1:n.1449+263_1449+264del | |
| XM_006714137.3:c.1671+263_1671+264del (F11) | XP_006714200.1:n.1671+263_1671+264del | |
| NM_000128.4:c.1716+263_1716+264del (F11) MANE Select | NP_000119.1:n.1716+263_1716+264del |