Linked Data
ClinVar Variation Id:
1588918
ClinVar RCV Id:
RCV002098576
dbSNP Id:
rs781352820
gnomAD v2:
19-10463236-A-AG
gnomAD v3:
19-10352560-A-AG
gnomAD v4:
19-10352560-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10352566dup , CM000681.2:g.10352566dup | GRCh38 |
| NC_000019.9:g.10463242dup , CM000681.1:g.10463242dup | GRCh37 |
| NC_000019.8:g.10324242dup | NCBI36 |
| NG_007872.1:g.33012dup , LRG_121:g.33012dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524470.2:c.*1550-10dup | ENSP00000514307.1:n.*1550-10dup | |
| ENST00000525976.6:c.3201-10dup | ENSP00000434831.2:n.3201-10dup | |
| ENST00000527481.3:c.3082-10dup | ENSP00000466340.2:n.3082-10dup | |
| ENST00000529370.6:n.4577-10dup | ||
| ENST00000529739.2:n.4010-10dup | ||
| ENST00000530829.2:c.*2752-10dup | ENSP00000436826.2:n.*2752-10dup | |
| ENST00000531836.6:c.3201-10dup | ENSP00000436175.2:n.3201-10dup | |
| ENST00000533334.2:c.*1242+365dup | ENSP00000432320.2:n.*1242+365dup | |
| ENST00000534228.2:n.5054+365dup | ||
| ENST00000699354.1:n.1303-10dup | ||
| ENST00000699355.1:c.*2701-10dup | ENSP00000514328.1:n.*2701-10dup | |
| ENST00000699356.1:n.4010-10dup | ||
| ENST00000699357.1:n.5055-10dup | ||
| ENST00000699358.1:c.3200+365dup | ENSP00000514329.1:n.3200+365dup | |
| ENST00000699359.1:c.375-10dup | ||
| ENST00000699360.1:c.3159-10dup | ENSP00000514331.1:n.3159-10dup | |
| ENST00000699361.1:n.225dup | ||
| ENST00000699362.1:c.97-10dup | ENSP00000514332.1:n.97-10dup | |
| ENST00000699363.1:c.97-10dup | ENSP00000514333.1:n.97-10dup | |
| ENST00000699364.1:n.201-10dup | ||
| ENST00000699365.1:c.270-10dup | ENSP00000514334.1:n.270-10dup | |
| ENST00000699366.1:n.111+1253dup | ||
| ENST00000699367.1:n.111+1253dup | ||
| ENST00000699368.1:c.688-10dup | ENSP00000514335.1:n.688-10dup | |
| ENST00000525621.6:c.3201-10dup MANE Select | ENSP00000431885.1:n.3201-10dup | |
| ENST00000264818.10:c.3201-10dup | ENSP00000264818.6:n.3201-10dup | |
| ENST00000524462.5:c.2646-10dup | ENSP00000433203.1:n.2646-10dup | |
| ENST00000525621.5:c.3201-10dup | ENSP00000431885.1:n.3201-10dup | |
| ENST00000527481.2:c.378-10dup | ||
| ENST00000529422.1:n.116+461dup | ||
| ENST00000529739.1:c.270-10dup | ENSP00000436155.1:n.270-10dup | |
| ENST00000530220.1:n.331+365dup | ||
| ENST00000530560.5:c.337+1481dup | ENSP00000465291.1:n.337+1481dup | |
| ENST00000592137.1:n.355-10dup | ||
| NM_003331.4:c.3201-10dup , LRG_121t1:c.3201-10dup | NP_003322.3:n.3201-10dup | |
| XM_011528245.1:c.3201-10dup | XP_011526547.1:n.3201-10dup | |
| XM_011528246.1:c.2904-10dup | XP_011526548.1:n.2904-10dup | |
| XM_011528247.1:c.2904-10dup | XP_011526549.1:n.2904-10dup | |
| XM_011528248.1:c.3200+365dup | XP_011526550.1:n.3200+365dup | |
| XM_011528249.1:c.1875-10dup | XP_011526551.1:n.1875-10dup | |
| XM_011528251.1:c.1458-10dup | XP_011526553.1:n.1458-10dup | |
| XM_011528246.3:c.2904-10dup | XP_011526548.1:n.2904-10dup | |
| XM_011528249.2:c.1875-10dup | XP_011526551.1:n.1875-10dup | |
| XR_001753750.1:n.3357+365dup | ||
| XR_001753751.1:n.3753-10dup | ||
| XR_002958353.1:n.4679-10dup | ||
| NM_003331.5:c.3201-10dup MANE Select | NP_003322.3:n.3201-10dup | |
| NM_001385197.1:c.3201-10dup | NP_001372126.1:n.3201-10dup | |
| NM_001385198.1:c.3168+397dup | NP_001372127.1:n.3168+397dup | |
| NM_001385199.1:c.3015-10dup | NP_001372128.1:n.3015-10dup | |
| NM_001385200.1:c.3198-10dup | NP_001372129.1:n.3198-10dup | |
| NM_001385201.1:c.3003-10dup | NP_001372130.1:n.3003-10dup | |
| NM_001385202.1:c.3117-10dup | NP_001372131.1:n.3117-10dup | |
| NM_001385203.1:c.3282-10dup | NP_001372132.1:n.3282-10dup | |
| NM_001385204.1:c.3411-10dup | NP_001372133.1:n.3411-10dup | |
| NM_001385205.1:c.3111-10dup | NP_001372134.1:n.3111-10dup | |
| NM_001385206.1:c.3075-10dup | NP_001372135.1:n.3075-10dup | |
| NM_001385207.1:c.3183-10dup | NP_001372136.1:n.3183-10dup |