Linked Data
dbSNP Id:
rs768122888
ExAC:
4:187209701 G / GT
gnomAD v2:
4-187209701-G-GT
gnomAD v4:
4-186288547-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186288547_186288548insT , CM000666.2:g.186288547_186288548insT | GRCh38 |
| NC_000004.11:g.187209701_187209702insT , CM000666.1:g.187209701_187209702insT | GRCh37 |
| NC_000004.10:g.187446695_187446696insT | NCBI36 |
| NG_008051.1:g.27584_27585insT , LRG_583:g.27584_27585insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1811_1812insT (F11) MANE Select | ENSP00000384957.2:p.Pro605AlafsTer? | |
| ENST00000264691.4:c.411_412insT (F11) | ||
| ENST00000264692.8:c.1649_1650insT (F11) | ENSP00000264692.5:p.Pro551AlafsTer? | |
| ENST00000403665.6:c.1811_1812insT (F11) | ENSP00000384957.2:p.Pro605AlafsTer? | |
| ENST00000503841.1:n.330_331insT (F11) | ||
| NM_000128.3:c.1811_1812insT , LRG_583t1:c.1811_1812insT (F11) | NP_000119.1:p.Pro605AlafsTer? | |
| NR_033900.1:n.946_947insA (F11-AS1) | ||
| XM_005262821.2:c.1814_1815insT (F11) | XP_005262878.1:p.Pro606AlafsTer? | |
| XM_005262822.2:c.1718_1719insT (F11) | XP_005262879.1:p.Pro574AlafsTer? | |
| XM_005262823.2:c.1544_1545insT (F11) | XP_005262880.1:p.Pro516AlafsTer? | |
| XM_006714137.1:c.1766_1767insT (F11) | XP_006714200.1:p.Pro590AlafsTer? | |
| XM_005262821.4:c.1814_1815insT (F11) | XP_005262878.1:p.Pro606AlafsTer? | |
| XM_005262822.4:c.1718_1719insT (F11) | XP_005262879.1:p.Pro574AlafsTer? | |
| XM_005262823.4:c.1544_1545insT (F11) | XP_005262880.1:p.Pro516AlafsTer? | |
| XM_006714137.3:c.1766_1767insT (F11) | XP_006714200.1:p.Pro590AlafsTer? | |
| NM_000128.4:c.1811_1812insT (F11) MANE Select | NP_000119.1:p.Pro605AlafsTer? |