Linked Data
ClinVar Variation Id:
222957
ClinVar RCV Id:
RCV000208566
dbSNP Id:
rs869025568
CIViC:
CA356974
PubMed:
PMID:9438854
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54727437_54727442del , CM000666.2:g.54727437_54727442del | GRCh38 |
| NC_000004.11:g.55593603_55593608del , CM000666.1:g.55593603_55593608del | GRCh37 |
| NC_000004.10:g.55288360_55288365del | NCBI36 |
| NG_007456.1:g.74443_74448del , LRG_307:g.74443_74448del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412167.7:c.1660_1665del | ENSP00000390987.3:p.Trp554_Lys555del | |
| ENST00000685269.1:n.1747_1752del | ||
| ENST00000686011.1:c.1657_1662del | ENSP00000509704.1:p.Trp553_Lys554del | |
| ENST00000687109.1:c.1672_1677del | ENSP00000509371.1:p.Trp558_Lys559del | |
| ENST00000687208.1:n.2084_2089del | ||
| ENST00000687246.1:c.1657_1662del | ENSP00000509114.1:p.Trp553_Lys554del | |
| ENST00000687265.1:n.1827_1832del | ||
| ENST00000687295.1:c.1657_1662del | ENSP00000509450.1:p.Trp553_Lys554del | |
| ENST00000689832.1:c.1672_1677del | ENSP00000509084.1:p.Trp558_Lys559del | |
| ENST00000689994.1:c.1159_1164del | ENSP00000509156.1:p.Trp387_Lys388del | |
| ENST00000690543.1:c.1660_1665del | ENSP00000508831.1:p.Trp554_Lys555del | |
| ENST00000690917.1:n.1887_1892del | ||
| ENST00000691361.1:n.579_584del | ||
| ENST00000692783.1:c.1669_1674del | ENSP00000508733.1:p.Trp557_Lys558del | |
| ENST00000692991.1:n.1766_1771del | ||
| ENST00000288135.6:c.1669_1674del MANE Select | ENSP00000288135.6:p.Trp557_Lys558del | |
| ENST00000288135.5:c.1669_1674del | ENSP00000288135.5:p.Trp557_Lys558del | |
| ENST00000412167.6:c.1657_1662del | ENSP00000390987.2:p.Trp553_Lys554del | |
| NM_000222.2:c.1669_1674del , LRG_307t1:c.1669_1674del | NP_000213.1:p.Trp557_Lys558del | |
| NM_001093772.1:c.1657_1662del | NP_001087241.1:p.Trp553_Lys554del | |
| XM_005265740.1:c.1672_1677del | XP_005265797.1:p.Trp558_Lys559del | |
| XM_005265741.1:c.1672_1677del | XP_005265798.1:p.Trp558_Lys559del | |
| XM_005265742.1:c.1660_1665del | XP_005265799.1:p.Trp554_Lys555del | |
| XM_005265742.3:c.1660_1665del | XP_005265799.1:p.Trp554_Lys555del | |
| XM_017008178.1:c.1669_1674del | XP_016863667.1:p.Trp557_Lys558del | |
| XM_017008179.1:c.1660_1665del | XP_016863668.1:p.Trp554_Lys555del | |
| XM_017008180.1:c.1657_1662del | XP_016863669.1:p.Trp553_Lys554del | |
| NM_000222.3:c.1669_1674del MANE Select | NP_000213.1:p.Trp557_Lys558del | |
| NM_001093772.2:c.1657_1662del | NP_001087241.1:p.Trp553_Lys554del | |
| NM_001385284.1:c.1672_1677del | NP_001372213.1:p.Trp558_Lys559del | |
| NM_001385285.1:c.1669_1674del | NP_001372214.1:p.Trp557_Lys558del | |
| NM_001385286.1:c.1657_1662del | NP_001372215.1:p.Trp553_Lys554del | |
| NM_001385288.1:c.1660_1665del | NP_001372217.1:p.Trp554_Lys555del | |
| NM_001385290.1:c.1672_1677del | NP_001372219.1:p.Trp558_Lys559del | |
| NM_001385292.1:c.1660_1665del | NP_001372221.1:p.Trp554_Lys555del |