Linked Data
ClinVar Variation Id:
550660
ClinVar RCV Id:
RCV000665462
dbSNP Id:
rs1554083727
gnomAD v4:
4-186285661-GT-G
MyVariant Identifiers:
chr4:g.186285662del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186285662del , CM000666.2:g.186285662del | GRCh38 |
| NC_000004.11:g.187206816del , CM000666.1:g.187206816del | GRCh37 |
| NC_000004.10:g.187443810del | NCBI36 |
| NG_008051.1:g.24699del , LRG_583:g.24699del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1329del MANE Select | ENSP00000384957.2:p.Val444SerfsTer6 | |
| ENST00000264691.4:c.25del | ||
| ENST00000264692.8:c.1167del | ENSP00000264692.5:p.Val390SerfsTer6 | |
| ENST00000403665.6:c.1329del | ENSP00000384957.2:p.Val444SerfsTer6 | |
| NM_000128.3:c.1329del , LRG_583t1:c.1329del | NP_000119.1:p.Val444SerfsTer6 | |
| XM_005262821.2:c.1332del | XP_005262878.1:p.Val445SerfsTer6 | |
| XM_005262822.2:c.1332del | XP_005262879.1:p.Val445SerfsTer6 | |
| XM_005262823.2:c.1062del | XP_005262880.1:p.Val355SerfsTer6 | |
| XM_005262824.1:c.1332del | XP_005262881.1:p.Val445SerfsTer6 | |
| XM_006714137.1:c.1284del | XP_006714200.1:p.Val429SerfsTer6 | |
| XR_938706.1:n.1737del | ||
| XR_938707.1:n.1737del | ||
| XM_005262821.4:c.1332del | XP_005262878.1:p.Val445SerfsTer6 | |
| XM_005262822.4:c.1332del | XP_005262879.1:p.Val445SerfsTer6 | |
| XM_005262823.4:c.1062del | XP_005262880.1:p.Val355SerfsTer6 | |
| XM_006714137.3:c.1284del | XP_006714200.1:p.Val429SerfsTer6 | |
| XR_001741172.2:n.1803del | ||
| NM_000128.4:c.1329del MANE Select | NP_000119.1:p.Val444SerfsTer6 |