Linked Data
ClinVar Variation Id:
375278
ClinVar RCV Id:
RCV000416370
dbSNP Id:
rs1057519052
PubMed:
PMID:28274275
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.141168410del , CM000670.2:g.141168410del | GRCh38 |
| NC_000008.10:g.142178509del , CM000670.1:g.142178509del | GRCh37 |
| NC_000008.9:g.142247691del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519811.6:c.2160del MANE Select | ENSP00000428714.1:p.Lys720AsnfsTer15 | |
| ENST00000262585.6:c.1920del | ENSP00000262585.2:p.Lys640AsnfsTer15 | |
| ENST00000424248.2:c.1764del | ENSP00000410594.1:p.Lys588AsnfsTer15 | |
| ENST00000518668.5:c.1933del | ||
| ENST00000519811.5:c.2160del | ENSP00000428714.1:p.Lys720AsnfsTer15 | |
| ENST00000520482.1:n.1701del | ||
| NM_014957.2:c.1920del | NP_055772.2:p.Lys640AsnfsTer15 | |
| XM_005250838.3:c.1959del | XP_005250895.2:p.Lys653AsnfsTer15 | |
| XM_005250839.2:c.1959del | XP_005250896.2:p.Lys653AsnfsTer15 | |
| XM_005250840.3:c.1803del | XP_005250897.2:p.Lys601AsnfsTer15 | |
| XM_005250841.2:c.1803del | XP_005250898.2:p.Lys601AsnfsTer15 | |
| XM_005250842.3:c.1926del | XP_005250899.1:p.Lys642AsnfsTer15 | |
| XM_005250843.3:c.1416del | XP_005250900.1:p.Lys472AsnfsTer15 | |
| XM_011516933.1:c.1959del | XP_011515235.1:p.Lys653AsnfsTer15 | |
| XM_011516934.1:c.1959del | XP_011515236.1:p.Lys653AsnfsTer15 | |
| XM_011516935.1:c.1593del | XP_011515237.1:p.Lys531AsnfsTer15 | |
| XM_011516936.1:c.1587del | XP_011515238.1:p.Lys529AsnfsTer15 | |
| XM_011516937.1:c.1959del | XP_011515239.1:p.Lys653AsnfsTer15 | |
| XM_011516938.1:c.1128del | XP_011515240.1:p.Lys376AsnfsTer15 | |
| XM_011516939.1:c.657del | XP_011515241.1:p.Lys219AsnfsTer15 | |
| XM_011516940.1:c.657del | XP_011515242.1:p.Lys219AsnfsTer15 | |
| XM_011516941.1:c.1959del | XP_011515243.1:p.Lys653AsnfsTer15 | |
| XM_011516942.1:c.1959del | XP_011515244.1:p.Lys653AsnfsTer15 | |
| XR_242384.2:n.2089del | ||
| XR_928310.1:n.2089del | ||
| XR_928311.1:n.2089del | ||
| XR_928312.1:n.2089del | ||
| NM_001352890.2:c.2160del | NP_001339819.2:p.Lys720AsnfsTer15 | |
| NM_001362798.1:c.2160del | NP_001349727.1:p.Lys720AsnfsTer15 | |
| NM_014957.4:c.1959del | NP_055772.3:p.Lys653AsnfsTer15 | |
| NR_148197.2:n.2256del | ||
| XM_005250840.5:c.2004del | XP_005250897.3:p.Lys668AsnfsTer15 | |
| XM_005250841.4:c.2004del | XP_005250898.3:p.Lys668AsnfsTer15 | |
| XM_005250842.4:c.1926del | XP_005250899.1:p.Lys642AsnfsTer15 | |
| XM_011516933.2:c.2160del | XP_011515235.2:p.Lys720AsnfsTer15 | |
| XM_011516934.3:c.2160del | XP_011515236.2:p.Lys720AsnfsTer15 | |
| XM_011516937.2:c.2160del | XP_011515239.2:p.Lys720AsnfsTer15 | |
| XM_011516938.3:c.1128del | XP_011515240.1:p.Lys376AsnfsTer15 | |
| XM_011516939.3:c.657del | XP_011515241.1:p.Lys219AsnfsTer15 | |
| XM_011516940.2:c.657del | XP_011515242.1:p.Lys219AsnfsTer15 | |
| XM_011516941.3:c.2160del | XP_011515243.2:p.Lys720AsnfsTer15 | |
| XM_017013241.1:c.1959del | XP_016868730.1:p.Lys653AsnfsTer15 | |
| XM_017013242.1:c.1416del | XP_016868731.1:p.Lys472AsnfsTer15 | |
| XM_017013243.1:c.696del | XP_016868732.1:p.Lys232AsnfsTer15 | |
| XR_001745497.2:n.2306del | ||
| XR_001745498.2:n.2306del | ||
| XR_928310.3:n.2306del | ||
| XR_928312.3:n.2306del | ||
| NM_001352890.3:c.2160del MANE Select | NP_001339819.2:p.Lys720AsnfsTer15 | |
| NM_001362798.2:c.2160del | NP_001349727.1:p.Lys720AsnfsTer15 | |
| NM_014957.5:c.1959del | NP_055772.3:p.Lys653AsnfsTer15 | |
| NR_148197.3:n.2279del |