Linked Data
dbSNP Id:
rs1298575252
gnomAD v3:
2-127428587-GGCTACCACA-G
gnomAD v4:
2-127428587-GGCTACCACA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127428590_127428598del , CM000664.2:g.127428590_127428598del | GRCh38 |
| NC_000002.11:g.128186166_128186174del , CM000664.1:g.128186166_128186174del | GRCh37 |
| NC_000002.10:g.127902636_127902644del | NCBI36 |
| NG_016323.1:g.15171_15179del , LRG_599:g.15171_15179del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.1030_1038del MANE Select | ENSP00000234071.4:p.Tyr344_Ser346del | |
| ENST00000234071.7:c.1030_1038del | ENSP00000234071.3:p.Tyr344_Ser346del | |
| ENST00000402125.2:c.354_362del | ||
| ENST00000409048.1:c.1132_1140del | ENSP00000386679.1:p.Tyr378_Ser380del | |
| NM_000312.3:c.1030_1038del , LRG_599t1:c.1030_1038del | NP_000303.1:p.Tyr344_Ser346del | |
| XM_005263715.3:c.1213_1221del | XP_005263772.1:p.Tyr405_Ser407del | |
| XM_005263716.3:c.1195_1203del | XP_005263773.1:p.Tyr399_Ser401del | |
| XM_005263717.3:c.1093_1101del | XP_005263774.1:p.Tyr365_Ser367del | |
| XR_923313.1:n.1332-332_1332-324del | ||
| XM_005263717.4:c.1093_1101del | XP_005263774.1:p.Tyr365_Ser367del | |
| XM_017004505.1:c.1273_1281del | XP_016859994.1:p.Tyr425_Ser427del | |
| XM_024453002.1:c.1375_1383del | XP_024308770.1:p.Tyr459_Ser461del | |
| XM_024453003.1:c.1315_1323del | XP_024308771.1:p.Tyr439_Ser441del | |
| XM_024453004.1:c.1213_1221del | XP_024308772.1:p.Tyr405_Ser407del | |
| XM_024453005.1:c.1195_1203del | XP_024308773.1:p.Tyr399_Ser401del | |
| XM_024453006.1:c.1132_1140del | XP_024308774.1:p.Tyr378_Ser380del | |
| XR_001739705.1:n.3607-332_3607-324del | ||
| XR_923313.2:n.4043-332_4043-324del | ||
| NM_000312.4:c.1030_1038del MANE Select | NP_000303.1:p.Tyr344_Ser346del | |
| NM_001375602.1:c.1213_1221del | NP_001362531.1:p.Tyr405_Ser407del | |
| NM_001375603.1:c.1195_1203del | NP_001362532.1:p.Tyr399_Ser401del | |
| NM_001375604.1:c.1093_1101del | NP_001362533.1:p.Tyr365_Ser367del | |
| NM_001375605.1:c.1132_1140del | NP_001362534.1:p.Tyr378_Ser380del | |
| NM_001375606.1:c.1198_1206del | NP_001362535.1:p.Tyr400_Ser402del | |
| NM_001375607.1:c.1216_1224del | NP_001362536.1:p.Tyr406_Ser408del | |
| NM_001375608.1:c.973_981del | NP_001362537.1:p.Tyr325_Ser327del | |
| NM_001375609.1:c.1006_1014del | NP_001362538.1:p.Tyr336_Ser338del | |
| NM_001375610.1:c.1024_1032del | NP_001362539.1:p.Tyr342_Ser344del | |
| NM_001375611.1:c.1030_1038del | NP_001362540.1:p.Tyr344_Ser346del | |
| NM_001375613.1:c.1030_1038del | NP_001362542.1:p.Tyr344_Ser346del |