Linked Data
dbSNP Id:
rs1366698822
gnomAD v3:
9-34517201-CCCAGGAAGT-C
gnomAD v4:
9-34517201-CCCAGGAAGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34517207_34517215del , CM000671.2:g.34517207_34517215del | GRCh38 |
| NC_000009.11:g.34517205_34517213del , CM000671.1:g.34517205_34517213del | GRCh37 |
| NC_000009.10:g.34507205_34507213del | NCBI36 |
| NG_008127.1:g.63395_63403del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242317.9:c.1819-78_1819-70del MANE Select | ENSP00000242317.4:n.1819-78_1819-70del | |
| ENST00000242317.8:c.1819-78_1819-70del | ENSP00000242317.4:n.1819-78_1819-70del | |
| ENST00000442556.1:c.329+2468_329+2476del | ||
| ENST00000470169.5:c.607-78_607-70del | ||
| ENST00000485580.1:n.395-78_395-70del | ||
| ENST00000614641.4:c.1831-78_1831-70del | ENSP00000480538.1:n.1831-78_1831-70del | |
| NM_001281428.1:c.1831-78_1831-70del | NP_001268357.1:n.1831-78_1831-70del | |
| NM_012144.3:c.1819-78_1819-70del | NP_036276.1:n.1819-78_1819-70del | |
| XM_006716758.2:c.1288-78_1288-70del | XP_006716821.1:n.1288-78_1288-70del | |
| XM_011517847.1:c.1843_1851del | XP_011516149.1:p.Lys615_Arg617del | |
| XM_011517848.1:c.1573-78_1573-70del | XP_011516150.1:n.1573-78_1573-70del | |
| XR_929233.1:n.1987_1995del | ||
| XM_006716758.3:c.1288-78_1288-70del | XP_006716821.1:n.1288-78_1288-70del | |
| XM_011517847.3:c.1843_1851del | XP_011516149.1:p.Lys615_Arg617del | |
| XM_011517848.2:c.1573-78_1573-70del | XP_011516150.1:n.1573-78_1573-70del | |
| XM_017014625.2:c.1561-78_1561-70del | XP_016870114.1:n.1561-78_1561-70del | |
| XR_002956774.1:n.1922-78_1922-70del | ||
| XR_929233.2:n.1934_1942del | ||
| NM_012144.4:c.1819-78_1819-70del MANE Select | NP_036276.1:n.1819-78_1819-70del | |
| NM_001281428.2:c.1831-78_1831-70del | NP_001268357.1:n.1831-78_1831-70del |