Linked Data
dbSNP Id:
rs1325591629
gnomAD v3:
17-8121651-GCGGCGGCAGCAGTCCGGTGAGGGGCGC-G
gnomAD v4:
17-8121651-GCGGCGGCAGCAGTCCGGTGAGGGGCGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8121657_8121683del , CM000679.2:g.8121657_8121683del | GRCh38 |
| NC_000017.10:g.8024975_8025001del , CM000679.1:g.8024975_8025001del | GRCh37 |
| NC_000017.9:g.7965700_7965726del | NCBI36 |
| NG_015807.1:g.2239_2265del | |
| NG_015816.1:g.7415_7441del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541682.7:c.586_612del MANE Select | ENSP00000446205.2:p.Ala196_Pro204del | |
| ENST00000317814.8:c.571_597del | ENSP00000314774.4:p.Ala191_Pro199del | |
| ENST00000541682.6:c.586_612del | ENSP00000446205.2:p.Ala196_Pro204del | |
| NM_001165967.1:c.586_612del | NP_001159439.1:p.Ala196_Pro204del | |
| NM_032580.3:c.571_597del | NP_115969.2:p.Ala191_Pro199del | |
| XM_011524038.1:c.691_717del | XP_011522340.1:p.Ala231_Pro239del | |
| XM_011524039.1:c.682_708del | XP_011522341.1:p.Ala228_Pro236del | |
| XM_011524040.1:c.682_708del | XP_011522342.1:p.Ala228_Pro236del | |
| XM_011524041.1:c.673_699del | XP_011522343.1:p.Ala225_Pro233del | |
| XM_011524042.1:c.544_570del | XP_011522344.1:p.Ala182_Pro190del | |
| XR_934203.1:n.69+1843_69+1869del | ||
| XM_017025232.1:c.691_717del | XP_016880721.1:p.Ala231_Pro239del | |
| XM_024451007.1:c.691_717del | XP_024306775.1:p.Ala231_Pro239del | |
| NM_001165967.2:c.586_612del MANE Select | NP_001159439.1:p.Ala196_Pro204del | |
| NM_032580.4:c.571_597del | NP_115969.2:p.Ala191_Pro199del |