Linked Data
dbSNP Id:
rs377566180
gnomAD v3:
4-186287591-A-AATATATAT
gnomAD v4:
4-186287591-A-AATATATAT
MyVariant Identifiers:
chr4:g.187208745_187208746insATATATAT (hg19)
chr4:g.186287591_186287592insATATATAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186287602_186287609dup , CM000666.2:g.186287602_186287609dup | GRCh38 |
| NC_000004.11:g.187208756_187208763dup , CM000666.1:g.187208756_187208763dup | GRCh37 |
| NC_000004.10:g.187445750_187445757dup | NCBI36 |
| NG_008051.1:g.26639_26646dup , LRG_583:g.26639_26646dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1577-82_1577-75dup (F11) MANE Select | ENSP00000384957.2:n.1577-82_1577-75dup | |
| ENST00000264691.4:c.177-82_177-75dup (F11) | ||
| ENST00000264692.8:c.1415-82_1415-75dup (F11) | ENSP00000264692.5:n.1415-82_1415-75dup | |
| ENST00000403665.6:c.1577-82_1577-75dup (F11) | ENSP00000384957.2:n.1577-82_1577-75dup | |
| ENST00000503841.1:n.14_21dup (F11) | ||
| NM_000128.3:c.1577-82_1577-75dup , LRG_583t1:c.1577-82_1577-75dup (F11) | NP_000119.1:n.1577-82_1577-75dup | |
| NR_033900.1:n.1066+829_1066+836dup (F11-AS1) | ||
| XM_005262821.2:c.1580-82_1580-75dup (F11) | XP_005262878.1:n.1580-82_1580-75dup | |
| XM_005262822.2:c.1484-82_1484-75dup (F11) | XP_005262879.1:n.1484-82_1484-75dup | |
| XM_005262823.2:c.1310-82_1310-75dup (F11) | XP_005262880.1:n.1310-82_1310-75dup | |
| XM_006714137.1:c.1532-82_1532-75dup (F11) | XP_006714200.1:n.1532-82_1532-75dup | |
| XR_938706.1:n.1985-82_1985-75dup (F11) | ||
| XR_938707.1:n.1889-82_1889-75dup (F11) | ||
| XM_005262821.4:c.1580-82_1580-75dup (F11) | XP_005262878.1:n.1580-82_1580-75dup | |
| XM_005262822.4:c.1484-82_1484-75dup (F11) | XP_005262879.1:n.1484-82_1484-75dup | |
| XM_005262823.4:c.1310-82_1310-75dup (F11) | XP_005262880.1:n.1310-82_1310-75dup | |
| XM_006714137.3:c.1532-82_1532-75dup (F11) | XP_006714200.1:n.1532-82_1532-75dup | |
| NM_000128.4:c.1577-82_1577-75dup (F11) MANE Select | NP_000119.1:n.1577-82_1577-75dup |