Linked Data
ClinVar Variation Id:
499845
dbSNP Id:
rs1555871188
MyVariant Identifiers:
chr21:g.43056856_43056857del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43056859_43056860del , CM000683.2:g.43056859_43056860del | GRCh38 |
| NG_008938.1:g.24074_24075del , LRG_777:g.24074_24075del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398165.8:c.1498_1499del MANE Select | ENSP00000381231.4:p.Ser500AlafsTer? | |
| ENST00000352178.9:c.1498_1499del | ENSP00000344460.5:p.Ser500AlafsTer? | |
| ENST00000359624.7:c.1498_1499del | ENSP00000352643.3:p.Ser500AlafsTer? | |
| ENST00000398158.5:c.1498_1499del | ENSP00000381225.1:p.Ser500AlafsTer? | |
| ENST00000398165.7:c.1498_1499del | ENSP00000381231.3:p.Ser500AlafsTer? | |
| ENST00000430013.1:c.459_460del | ||
| ENST00000451248.5:c.248_249del | ||
| ENST00000458223.5:c.261_262del | ||
| ENST00000461686.5:n.1809_1810del | ||
| ENST00000462349.5:n.789_790del | ||
| ENST00000491776.1:n.433_434del | ||
| NM_000071.2:c.1498_1499del , LRG_777t1:c.1498_1499del | NP_000062.1:p.Ser500AlafsTer? | |
| NM_001178008.1:c.1498_1499del | NP_001171479.1:p.Ser500AlafsTer? | |
| NM_001178009.1:c.1498_1499del | NP_001171480.1:p.Ser500AlafsTer? | |
| XM_011529773.1:c.1549_1550del | XP_011528075.1:p.Ser517AlafsTer? | |
| XM_011529774.1:c.1549_1550del | XP_011528076.1:p.Ser517AlafsTer? | |
| XM_011529775.1:c.1549_1550del | XP_011528077.1:p.Ser517AlafsTer? | |
| XM_011529776.1:c.1549_1550del | XP_011528078.1:p.Ser517AlafsTer? | |
| XM_011529777.1:c.1498_1499del | XP_011528079.1:p.Ser500AlafsTer? | |
| XM_011529778.1:c.1498_1499del | XP_011528080.1:p.Ser500AlafsTer? | |
| XM_011529779.1:c.1498_1499del | XP_011528081.1:p.Ser500AlafsTer? | |
| XM_011529781.1:c.1498_1499del | XP_011528083.1:p.Ser500AlafsTer? | |
| XM_011529782.1:c.1498_1499del | XP_011528084.1:p.Ser500AlafsTer? | |
| XM_011529783.1:c.1183_1184del | XP_011528085.1:p.Ser395AlafsTer? | |
| XM_011529784.1:c.1183_1184del | XP_011528086.1:p.Ser395AlafsTer? | |
| NM_001178008.2:c.1498_1499del | NP_001171479.1:p.Ser500AlafsTer? | |
| NM_001178009.2:c.1498_1499del | NP_001171480.1:p.Ser500AlafsTer? | |
| NM_001320298.1:c.1498_1499del | NP_001307227.1:p.Ser500AlafsTer? | |
| NM_001321072.1:c.1183_1184del | NP_001308001.1:p.Ser395AlafsTer? | |
| XM_011529774.2:c.1549_1550del | XP_011528076.1:p.Ser517AlafsTer? | |
| XM_011529777.2:c.1498_1499del | XP_011528079.1:p.Ser500AlafsTer? | |
| XM_011529783.2:c.1183_1184del | XP_011528085.1:p.Ser395AlafsTer? | |
| XM_017028491.2:c.1498_1499del | XP_016883980.1:p.Ser500AlafsTer? | |
| XM_024452136.1:c.1549_1550del | XP_024307904.1:p.Ser517AlafsTer? | |
| XM_024452137.1:c.1549_1550del | XP_024307905.1:p.Ser517AlafsTer? | |
| XM_024452138.1:c.1183_1184del | XP_024307906.1:p.Ser395AlafsTer? | |
| XM_024452139.1:c.1183_1184del | XP_024307907.1:p.Ser395AlafsTer? | |
| XM_024452140.1:c.1183_1184del | XP_024307908.1:p.Ser395AlafsTer? | |
| XR_001754915.1:n.1877_1878del | ||
| XR_001754916.2:n.1802_1803del | ||
| XR_001754917.2:n.1802_1803del | ||
| XR_002958634.1:n.2477_2478del | ||
| NM_000071.3:c.1498_1499del MANE Select | NP_000062.1:p.Ser500AlafsTer? | |
| NM_001178009.3:c.1498_1499del | NP_001171480.1:p.Ser500AlafsTer? | |
| NM_001178008.3:c.1498_1499del | NP_001171479.1:p.Ser500AlafsTer? | |
| NM_001320298.2:c.1498_1499del | NP_001307227.1:p.Ser500AlafsTer? |