Linked Data
ClinVar Variation Id:
554920
ClinVar RCV Id:
RCV000670636
dbSNP Id:
rs1554082938
MyVariant Identifiers:
chr4:g.186280347del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186280347del , CM000666.2:g.186280347del | GRCh38 |
| NC_000004.11:g.187201501del , CM000666.1:g.187201501del | GRCh37 |
| NC_000004.10:g.187438495del | NCBI36 |
| NG_008051.1:g.19384del , LRG_583:g.19384del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.990del MANE Select | ENSP00000384957.2:p.Phe330LeufsTer19 | |
| ENST00000264692.8:c.828del | ENSP00000264692.5:p.Phe276LeufsTer19 | |
| ENST00000403665.6:c.990del | ENSP00000384957.2:p.Phe330LeufsTer19 | |
| ENST00000452239.1:c.437del | ||
| NM_000128.3:c.990del , LRG_583t1:c.990del | NP_000119.1:p.Phe330LeufsTer19 | |
| XM_005262821.2:c.990del | XP_005262878.1:p.Phe330LeufsTer20 | |
| XM_005262822.2:c.990del | XP_005262879.1:p.Phe330LeufsTer20 | |
| XM_005262823.2:c.720del | XP_005262880.1:p.Phe240LeufsTer20 | |
| XM_005262824.1:c.990del | XP_005262881.1:p.Phe330LeufsTer20 | |
| XM_006714137.1:c.942del | XP_006714200.1:p.Phe314LeufsTer20 | |
| XR_938706.1:n.1342del | ||
| XR_938707.1:n.1342del | ||
| XM_005262821.4:c.990del | XP_005262878.1:p.Phe330LeufsTer20 | |
| XM_005262822.4:c.990del | XP_005262879.1:p.Phe330LeufsTer20 | |
| XM_005262823.4:c.720del | XP_005262880.1:p.Phe240LeufsTer20 | |
| XM_006714137.3:c.942del | XP_006714200.1:p.Phe314LeufsTer20 | |
| XM_017007884.2:c.990del | XP_016863373.1:p.Phe330LeufsTer20 | |
| XM_017007885.2:c.990del | XP_016863374.1:p.Phe330LeufsTer20 | |
| XM_017007886.2:c.990del | XP_016863375.1:p.Phe330LeufsTer19 | |
| XR_001741172.2:n.1323del | ||
| NM_000128.4:c.990del MANE Select | NP_000119.1:p.Phe330LeufsTer19 |