Linked Data
dbSNP Id:
rs745799712
ExAC:
17:41063390 ATCCCCT / A
gnomAD v2:
17-41063390-ATCCCCT-A
gnomAD v3:
17-42911373-ATCCCCT-A
gnomAD v4:
17-42911373-ATCCCCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911374_42911379del , CM000679.2:g.42911374_42911379del | GRCh38 |
| NC_000017.10:g.41063391_41063396del , CM000679.1:g.41063391_41063396del | GRCh37 |
| NC_000017.9:g.38316917_38316922del | NCBI36 |
| NG_011808.1:g.15577_15582del , LRG_147:g.15577_15582del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.1022_1027del MANE Select | ENSP00000253801.1:p.Ile341_Tyr343delinsAsn | |
| ENST00000253801.6:c.1022_1027del | ENSP00000253801.1:p.Ile341_Tyr343delinsAsn | |
| ENST00000585489.1:c.*414_*419del | ENSP00000466202.1:n.*414_*419del | |
| NM_000151.3:c.1022_1027del | NP_000142.2:p.Ile341_Tyr343delinsAsn | |
| NM_001270397.1:c.*414_*419del | NP_001257326.1:n.*414_*419del | |
| NM_000151.4:c.1022_1027del MANE Select | NP_000142.2:p.Ile341_Tyr343delinsAsn | |
| NM_001270397.2:c.*414_*419del | NP_001257326.1:n.*414_*419del |