Linked Data
dbSNP Id:
rs1372853420
gnomAD v2:
19-10463286-C-CCAGGCTGAAGCCCTCACCT
gnomAD v3:
19-10352610-C-CCAGGCTGAAGCCCTCACCT
gnomAD v4:
19-10352610-C-CCAGGCTGAAGCCCTCACCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10352611_10352629dup , CM000681.2:g.10352611_10352629dup | GRCh38 |
| NC_000019.9:g.10463287_10463305dup , CM000681.1:g.10463287_10463305dup | GRCh37 |
| NC_000019.8:g.10324287_10324305dup | NCBI36 |
| NG_007872.1:g.32944_32962dup , LRG_121:g.32944_32962dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524470.2:c.*1550-78_*1550-60dup | ENSP00000514307.1:n.*1550-78_*1550-60dup | |
| ENST00000525976.6:c.3201-78_3201-60dup | ENSP00000434831.2:n.3201-78_3201-60dup | |
| ENST00000527481.3:c.3082-78_3082-60dup | ENSP00000466340.2:n.3082-78_3082-60dup | |
| ENST00000529370.6:n.4577-78_4577-60dup | ||
| ENST00000529739.2:n.4010-78_4010-60dup | ||
| ENST00000530829.2:c.*2752-78_*2752-60dup | ENSP00000436826.2:n.*2752-78_*2752-60dup | |
| ENST00000531836.6:c.3201-78_3201-60dup | ENSP00000436175.2:n.3201-78_3201-60dup | |
| ENST00000533334.2:c.*1242+297_*1242+315dup | ENSP00000432320.2:n.*1242+297_*1242+315dup | |
| ENST00000534228.2:n.5054+297_5054+315dup | ||
| ENST00000699354.1:n.1303-78_1303-60dup | ||
| ENST00000699355.1:c.*2701-78_*2701-60dup | ENSP00000514328.1:n.*2701-78_*2701-60dup | |
| ENST00000699356.1:n.4010-78_4010-60dup | ||
| ENST00000699357.1:n.5055-78_5055-60dup | ||
| ENST00000699358.1:c.3200+297_3200+315dup | ENSP00000514329.1:n.3200+297_3200+315dup | |
| ENST00000699359.1:c.375-78_375-60dup | ||
| ENST00000699360.1:c.3159-78_3159-60dup | ENSP00000514331.1:n.3159-78_3159-60dup | |
| ENST00000699361.1:n.157_175dup | ||
| ENST00000699362.1:c.97-78_97-60dup | ENSP00000514332.1:n.97-78_97-60dup | |
| ENST00000699363.1:c.97-78_97-60dup | ENSP00000514333.1:n.97-78_97-60dup | |
| ENST00000699364.1:n.201-78_201-60dup | ||
| ENST00000699365.1:c.270-78_270-60dup | ENSP00000514334.1:n.270-78_270-60dup | |
| ENST00000699366.1:n.111+1185_111+1203dup | ||
| ENST00000699367.1:n.111+1185_111+1203dup | ||
| ENST00000699368.1:c.688-78_688-60dup | ENSP00000514335.1:n.688-78_688-60dup | |
| ENST00000525621.6:c.3201-78_3201-60dup MANE Select | ENSP00000431885.1:n.3201-78_3201-60dup | |
| ENST00000264818.10:c.3201-78_3201-60dup | ENSP00000264818.6:n.3201-78_3201-60dup | |
| ENST00000524462.5:c.2646-78_2646-60dup | ENSP00000433203.1:n.2646-78_2646-60dup | |
| ENST00000525621.5:c.3201-78_3201-60dup | ENSP00000431885.1:n.3201-78_3201-60dup | |
| ENST00000527481.2:c.378-78_378-60dup | ||
| ENST00000529422.1:n.116+393_116+411dup | ||
| ENST00000529739.1:c.270-78_270-60dup | ENSP00000436155.1:n.270-78_270-60dup | |
| ENST00000530220.1:n.331+297_331+315dup | ||
| ENST00000530560.5:c.337+1413_337+1431dup | ENSP00000465291.1:n.337+1413_337+1431dup | |
| ENST00000592137.1:n.355-78_355-60dup | ||
| NM_003331.4:c.3201-78_3201-60dup , LRG_121t1:c.3201-78_3201-60dup | NP_003322.3:n.3201-78_3201-60dup | |
| XM_011528245.1:c.3201-78_3201-60dup | XP_011526547.1:n.3201-78_3201-60dup | |
| XM_011528246.1:c.2904-78_2904-60dup | XP_011526548.1:n.2904-78_2904-60dup | |
| XM_011528247.1:c.2904-78_2904-60dup | XP_011526549.1:n.2904-78_2904-60dup | |
| XM_011528248.1:c.3200+297_3200+315dup | XP_011526550.1:n.3200+297_3200+315dup | |
| XM_011528249.1:c.1875-78_1875-60dup | XP_011526551.1:n.1875-78_1875-60dup | |
| XM_011528251.1:c.1458-78_1458-60dup | XP_011526553.1:n.1458-78_1458-60dup | |
| XM_011528246.3:c.2904-78_2904-60dup | XP_011526548.1:n.2904-78_2904-60dup | |
| XM_011528249.2:c.1875-78_1875-60dup | XP_011526551.1:n.1875-78_1875-60dup | |
| XR_001753750.1:n.3357+297_3357+315dup | ||
| XR_001753751.1:n.3753-78_3753-60dup | ||
| XR_002958353.1:n.4679-78_4679-60dup | ||
| NM_003331.5:c.3201-78_3201-60dup MANE Select | NP_003322.3:n.3201-78_3201-60dup | |
| NM_001385197.1:c.3201-78_3201-60dup | NP_001372126.1:n.3201-78_3201-60dup | |
| NM_001385198.1:c.3168+329_3168+347dup | NP_001372127.1:n.3168+329_3168+347dup | |
| NM_001385199.1:c.3015-78_3015-60dup | NP_001372128.1:n.3015-78_3015-60dup | |
| NM_001385200.1:c.3198-78_3198-60dup | NP_001372129.1:n.3198-78_3198-60dup | |
| NM_001385201.1:c.3003-78_3003-60dup | NP_001372130.1:n.3003-78_3003-60dup | |
| NM_001385202.1:c.3117-78_3117-60dup | NP_001372131.1:n.3117-78_3117-60dup | |
| NM_001385203.1:c.3282-78_3282-60dup | NP_001372132.1:n.3282-78_3282-60dup | |
| NM_001385204.1:c.3411-78_3411-60dup | NP_001372133.1:n.3411-78_3411-60dup | |
| NM_001385205.1:c.3111-78_3111-60dup | NP_001372134.1:n.3111-78_3111-60dup | |
| NM_001385206.1:c.3075-78_3075-60dup | NP_001372135.1:n.3075-78_3075-60dup | |
| NM_001385207.1:c.3183-78_3183-60dup | NP_001372136.1:n.3183-78_3183-60dup |