Linked Data
dbSNP Id:
rs1020554380
gnomAD v2:
14-88434478-CTTTA-C
gnomAD v3:
14-87968134-CTTTA-C
gnomAD v4:
14-87968134-CTTTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87968139_87968142del , CM000676.2:g.87968139_87968142del | GRCh38 |
| NC_000014.8:g.88434483_88434486del , CM000676.1:g.88434483_88434486del | GRCh37 |
| NC_000014.7:g.87504236_87504239del | NCBI36 |
| NG_011853.2:g.30426_30429del | |
| NG_011853.3:g.30426_30429del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.908+197_908+200del MANE Select | ENSP00000261304.2:n.908+197_908+200del | |
| ENST00000261304.6:c.908+197_908+200del | ENSP00000261304.2:n.908+197_908+200del | |
| ENST00000393568.8:c.839+197_839+200del | ENSP00000377198.4:n.839+197_839+200del | |
| ENST00000393569.6:c.830+197_830+200del | ENSP00000377199.2:n.830+197_830+200del | |
| ENST00000474294.6:n.898+197_898+200del | ||
| ENST00000544807.6:c.740+197_740+200del | ENSP00000437513.2:n.740+197_740+200del | |
| ENST00000555000.5:c.275+197_275+200del | ENSP00000450472.1:n.275+197_275+200del | |
| ENST00000557316.5:c.*306+197_*306+200del | ENSP00000452314.1:n.*306+197_*306+200del | |
| ENST00000622264.4:c.898+197_898+200del | ||
| NM_000153.3:c.908+197_908+200del | NP_000144.2:n.908+197_908+200del | |
| NM_001201401.1:c.839+197_839+200del | NP_001188330.1:n.839+197_839+200del | |
| NM_001201402.1:c.830+197_830+200del | NP_001188331.1:n.830+197_830+200del | |
| XM_011536618.1:c.740+197_740+200del | XP_011534920.1:n.740+197_740+200del | |
| XM_011536618.2:c.740+197_740+200del | XP_011534920.1:n.740+197_740+200del | |
| NM_000153.4:c.908+197_908+200del MANE Select | NP_000144.2:n.908+197_908+200del | |
| NM_001201401.2:c.839+197_839+200del | NP_001188330.1:n.839+197_839+200del | |
| NM_001201402.2:c.830+197_830+200del | NP_001188331.1:n.830+197_830+200del |