Linked Data
dbSNP Id:
rs762958910
ExAC:
12:53823797 TC / T
gnomAD v2:
12-53823797-TC-T
gnomAD v3:
12-53430013-TC-T
gnomAD v4:
12-53430013-TC-T
COSMIC:
COSN20041956
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53430020del , CM000674.2:g.53430020del | GRCh38 |
| NC_000012.11:g.53823804del , CM000674.1:g.53823804del | GRCh37 |
| NC_000012.10:g.52110071del | NCBI36 |
| NG_015981.1:g.11166del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257863.9:c.1288+42del MANE Select | ENSP00000257863.3:n.1288+42del | |
| ENST00000257863.8:c.1288+42del | ENSP00000257863.3:n.1288+42del | |
| ENST00000379791.7:c.1140+395del | ENSP00000369117.3:n.1140+395del | |
| ENST00000550311.5:c.1288+42del | ENSP00000446661.1:n.1288+42del | |
| ENST00000550839.1:c.379+42del | ENSP00000455338.1:n.379+42del | |
| ENST00000552233.5:n.918del | ||
| NM_001164690.1:c.1288+42del | NP_001158162.1:n.1288+42del | |
| NM_001164691.1:c.1140+395del | NP_001158163.1:n.1140+395del | |
| NM_020547.2:c.1288+42del | NP_065434.1:n.1288+42del | |
| XM_011538173.1:c.1348+42del | XP_011536475.1:n.1348+42del | |
| XM_011538174.1:c.1345+42del | XP_011536476.1:n.1345+42del | |
| XM_011538175.1:c.1330+42del | XP_011536477.1:n.1330+42del | |
| XM_011538176.1:c.1291+42del | XP_011536478.1:n.1291+42del | |
| XM_011538177.1:c.1270+42del | XP_011536479.1:n.1270+42del | |
| XM_011538178.1:c.1129+42del | XP_011536480.1:n.1129+42del | |
| XM_011538179.1:c.1200+395del | XP_011536481.1:n.1200+395del | |
| XM_011538180.1:c.1015+42del | XP_011536482.1:n.1015+42del | |
| XM_011538181.1:c.1012+42del | XP_011536483.1:n.1012+42del | |
| XM_011538182.1:c.937+42del | XP_011536484.1:n.937+42del | |
| XM_011538183.1:c.1201-126del | XP_011536485.1:n.1201-126del | |
| XM_011538184.1:c.1220+375del | XP_011536486.1:n.1220+375del | |
| XM_011538185.1:c.856-1157del | XP_011536487.1:n.856-1157del | |
| XM_011538186.1:c.463+42del | XP_011536488.1:n.463+42del | |
| NM_001164690.2:c.1288+42del | NP_001158162.1:n.1288+42del | |
| NM_001164691.2:c.1140+395del | NP_001158163.1:n.1140+395del | |
| NM_020547.3:c.1288+42del MANE Select | NP_065434.1:n.1288+42del | |
| XM_011538183.2:c.1201-126del | XP_011536485.1:n.1201-126del | |
| XM_011538184.2:c.1220+375del | XP_011536486.1:n.1220+375del | |
| XM_011538186.3:c.463+42del | XP_011536488.1:n.463+42del | |
| XM_017019179.2:c.1348+42del | XP_016874668.1:n.1348+42del | |
| XM_024448938.1:c.1143+395del | XP_024304706.1:n.1143+395del | |
| XR_002957309.1:n.1256+42del | ||
| XR_002957310.1:n.1109-126del | ||
| XR_002957311.1:n.1256+42del | ||
| XR_002957312.1:n.1108+395del |