Linked Data
ClinVar Variation Id:
188727
dbSNP Id:
rs786204429
ExAC:
4:187201670 TA / T
gnomAD v2:
4-187201670-TA-T
gnomAD v4:
4-186280516-TA-T
MyVariant Identifiers:
chr4:g.187201674del (hg19)
chr4:g.187201671del (hg19)
chr4:g.186280520del (hg38)
chr4:g.186280517del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186280520del , CM000666.2:g.186280520del | GRCh38 |
| NC_000004.11:g.187201674del , CM000666.1:g.187201674del | GRCh37 |
| NC_000004.10:g.187438668del | NCBI36 |
| NG_008051.1:g.19557del , LRG_583:g.19557del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.1075del MANE Select | ENSP00000384957.2:p.Ile359TyrfsTer13 | |
| ENST00000264692.8:c.913del | ENSP00000264692.5:p.Ile305TyrfsTer13 | |
| ENST00000403665.6:c.1075del | ENSP00000384957.2:p.Ile359TyrfsTer13 | |
| ENST00000452239.1:c.522del | ||
| NM_000128.3:c.1075del , LRG_583t1:c.1075del | NP_000119.1:p.Ile359TyrfsTer13 | |
| XM_005262821.2:c.1078del | XP_005262878.1:p.Ile360TyrfsTer13 | |
| XM_005262822.2:c.1078del | XP_005262879.1:p.Ile360TyrfsTer13 | |
| XM_005262823.2:c.808del | XP_005262880.1:p.Ile270TyrfsTer13 | |
| XM_005262824.1:c.1078del | XP_005262881.1:p.Ile360TyrfsTer13 | |
| XM_006714137.1:c.1030del | XP_006714200.1:p.Ile344TyrfsTer13 | |
| XR_938706.1:n.1430del | ||
| XR_938707.1:n.1430del | ||
| XM_005262821.4:c.1078del | XP_005262878.1:p.Ile360TyrfsTer13 | |
| XM_005262822.4:c.1078del | XP_005262879.1:p.Ile360TyrfsTer13 | |
| XM_005262823.4:c.808del | XP_005262880.1:p.Ile270TyrfsTer13 | |
| XM_006714137.3:c.1030del | XP_006714200.1:p.Ile344TyrfsTer13 | |
| XM_017007884.2:c.1078del | XP_016863373.1:p.Ile360TyrfsTer13 | |
| XM_017007885.2:c.1078del | XP_016863374.1:p.Ile360TyrfsTer13 | |
| XM_017007886.2:c.1075del | XP_016863375.1:p.Ile359TyrfsTer13 | |
| XR_001741172.2:n.1496del | ||
| NM_000128.4:c.1075del MANE Select | NP_000119.1:p.Ile359TyrfsTer13 |