Linked Data
dbSNP Id:
rs1554913410
gnomAD v2:
10-96070367-GAGCAGGAATCA-G
gnomAD v3:
10-94310610-GAGCAGGAATCA-G
gnomAD v4:
10-94310610-GAGCAGGAATCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94310611_94310621del , CM000672.2:g.94310611_94310621del | GRCh38 |
| NC_000010.10:g.96070368_96070378del , CM000672.1:g.96070368_96070378del | GRCh37 |
| NC_000010.9:g.96060358_96060368del | NCBI36 |
| NG_015799.1:g.321623_321633del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371375.2:c.5079+1912_5079+1922del | ENSP00000360426.1:n.5079+1912_5079+1922del | |
| ENST00000685132.1:n.970_980del | ||
| ENST00000685253.1:c.*2546+1912_*2546+1922del | ENSP00000509405.1:n.*2546+1912_*2546+1922del | |
| ENST00000685889.1:n.2738+1912_2738+1922del | ||
| ENST00000686807.1:n.1422+1912_1422+1922del | ||
| ENST00000686954.1:c.*1287+1912_*1287+1922del | ENSP00000508416.1:n.*1287+1912_*1287+1922del | |
| ENST00000688810.1:c.5031+1912_5031+1922del | ENSP00000509140.1:n.5031+1912_5031+1922del | |
| ENST00000689233.1:n.10211+1912_10211+1922del | ||
| ENST00000690340.1:n.3676+1912_3676+1922del | ||
| ENST00000692286.1:c.5871+1912_5871+1922del | ENSP00000509490.1:n.5871+1912_5871+1922del | |
| ENST00000692396.1:c.5955+1912_5955+1922del | ENSP00000508605.1:n.5955+1912_5955+1922del | |
| ENST00000371380.8:c.6003+1912_6003+1922del MANE Select | ENSP00000360431.2:n.6003+1912_6003+1922del | |
| ENST00000371385.8:c.4977+1912_4977+1922del | ENSP00000360438.4:n.4977+1912_4977+1922del | |
| ENST00000674738.1:c.4558+1912_4558+1922del | ||
| ENST00000674827.1:c.4119+1912_4119+1922del | ENSP00000502523.1:n.4119+1912_4119+1922del | |
| ENST00000675218.1:c.5079+1912_5079+1922del | ENSP00000501910.1:n.5079+1912_5079+1922del | |
| ENST00000675487.1:c.*1936+1912_*1936+1922del | ENSP00000502340.1:n.*1936+1912_*1936+1922del | |
| ENST00000675718.1:c.5272+1912_5272+1922del | ||
| ENST00000260766.7:c.6003+1912_6003+1922del | ENSP00000260766.3:n.6003+1912_6003+1922del | |
| ENST00000371375.1:c.5079+1912_5079+1922del | ENSP00000360426.1:n.5079+1912_5079+1922del | |
| ENST00000371380.7:c.6003+1912_6003+1922del | ENSP00000360431.2:n.6003+1912_6003+1922del | |
| ENST00000371385.7:c.5079+1912_5079+1922del | ENSP00000360438.3:n.5079+1912_5079+1922del | |
| NM_001165979.2:c.5079+1912_5079+1922del | NP_001159451.1:n.5079+1912_5079+1922del | |
| NM_001288989.1:c.5955+1912_5955+1922del | NP_001275918.1:n.5955+1912_5955+1922del | |
| NM_016341.3:c.6003+1912_6003+1922del | NP_057425.3:n.6003+1912_6003+1922del | |
| XM_006717885.2:c.6045+1912_6045+1922del | XP_006717948.1:n.6045+1912_6045+1922del | |
| XM_006717886.2:c.6045+1912_6045+1922del | XP_006717949.1:n.6045+1912_6045+1922del | |
| XM_006717888.2:c.6042+1912_6042+1922del | XP_006717951.1:n.6042+1912_6042+1922del | |
| XM_006717889.2:c.5997+1912_5997+1922del | XP_006717952.1:n.5997+1912_5997+1922del | |
| XM_006717890.1:c.5121+1912_5121+1922del | XP_006717953.1:n.5121+1912_5121+1922del | |
| XM_011539849.1:c.6045+1912_6045+1922del | XP_011538151.1:n.6045+1912_6045+1922del | |
| XM_011539850.1:c.4890+1912_4890+1922del | XP_011538152.1:n.4890+1912_4890+1922del | |
| XM_006717885.4:c.6045+1912_6045+1922del | XP_006717948.1:n.6045+1912_6045+1922del | |
| XM_006717888.4:c.6042+1912_6042+1922del | XP_006717951.1:n.6042+1912_6042+1922del | |
| XM_006717889.4:c.5997+1912_5997+1922del | XP_006717952.1:n.5997+1912_5997+1922del | |
| XM_006717890.3:c.5121+1912_5121+1922del | XP_006717953.1:n.5121+1912_5121+1922del | |
| XM_011539849.3:c.6045+1912_6045+1922del | XP_011538151.1:n.6045+1912_6045+1922del | |
| XM_011539850.3:c.4890+1912_4890+1922del | XP_011538152.1:n.4890+1912_4890+1922del | |
| XM_017016310.2:c.6045+1912_6045+1922del | XP_016871799.1:n.6045+1912_6045+1922del | |
| XM_017016311.2:c.6045+1912_6045+1922del | XP_016871800.1:n.6045+1912_6045+1922del | |
| XM_017016312.2:c.5031+1912_5031+1922del | XP_016871801.1:n.5031+1912_5031+1922del | |
| NM_001288989.2:c.5955+1912_5955+1922del | NP_001275918.1:n.5955+1912_5955+1922del | |
| NM_016341.4:c.6003+1912_6003+1922del MANE Select | NP_057425.3:n.6003+1912_6003+1922del |