Linked Data
dbSNP Id:
rs1234139483
gnomAD v2:
4-187207538-T-TCATATTTAAAC
gnomAD v4:
4-186286384-T-TCATATTTAAAC
MyVariant Identifiers:
chr4:g.187207538_187207539insCATATTTAAAC (hg19)
chr4:g.186286384_186286385insCATATTTAAAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186286387_186286397dup , CM000666.2:g.186286387_186286397dup | GRCh38 |
| NC_000004.11:g.187207541_187207551dup , CM000666.1:g.187207541_187207551dup | GRCh37 |
| NC_000004.10:g.187444535_187444545dup | NCBI36 |
| NG_008051.1:g.25424_25434dup , LRG_583:g.25424_25434dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.1481-28_1481-18dup (F11) MANE Select | ENSP00000384957.2:n.1481-28_1481-18dup | |
| ENST00000264691.4:c.176+574_176+584dup (F11) | ||
| ENST00000264692.8:c.1319-28_1319-18dup (F11) | ENSP00000264692.5:n.1319-28_1319-18dup | |
| ENST00000403665.6:c.1481-28_1481-18dup (F11) | ENSP00000384957.2:n.1481-28_1481-18dup | |
| NM_000128.3:c.1481-28_1481-18dup , LRG_583t1:c.1481-28_1481-18dup (F11) | NP_000119.1:n.1481-28_1481-18dup | |
| NR_033900.1:n.1067-129_1067-119dup (F11-AS1) | ||
| XM_005262821.2:c.1484-28_1484-18dup (F11) | XP_005262878.1:n.1484-28_1484-18dup | |
| XM_005262822.2:c.1483+574_1483+584dup (F11) | XP_005262879.1:n.1483+574_1483+584dup | |
| XM_005262823.2:c.1214-28_1214-18dup (F11) | XP_005262880.1:n.1214-28_1214-18dup | |
| XM_005262824.1:c.1484-159_1484-149dup (F11) | XP_005262881.1:n.1484-159_1484-149dup | |
| XM_006714137.1:c.1436-28_1436-18dup (F11) | XP_006714200.1:n.1436-28_1436-18dup | |
| XR_938706.1:n.1889-28_1889-18dup (F11) | ||
| XR_938707.1:n.1888+574_1888+584dup (F11) | ||
| XM_005262821.4:c.1484-28_1484-18dup (F11) | XP_005262878.1:n.1484-28_1484-18dup | |
| XM_005262822.4:c.1483+574_1483+584dup (F11) | XP_005262879.1:n.1483+574_1483+584dup | |
| XM_005262823.4:c.1214-28_1214-18dup (F11) | XP_005262880.1:n.1214-28_1214-18dup | |
| XM_006714137.3:c.1436-28_1436-18dup (F11) | XP_006714200.1:n.1436-28_1436-18dup | |
| XR_001741172.2:n.1955-28_1955-18dup (F11) | ||
| NM_000128.4:c.1481-28_1481-18dup (F11) MANE Select | NP_000119.1:n.1481-28_1481-18dup |