Linked Data
dbSNP Id:
rs1203459447
gnomAD v2:
10-96058088-TTTA-T
gnomAD v3:
10-94298331-TTTA-T
gnomAD v4:
10-94298331-TTTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94298332_94298334del , CM000672.2:g.94298332_94298334del | GRCh38 |
| NC_000010.10:g.96058089_96058091del , CM000672.1:g.96058089_96058091del | GRCh37 |
| NC_000010.9:g.96048079_96048081del | NCBI36 |
| NG_015799.1:g.309344_309346del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371375.2:c.4244-47_4244-45del | ENSP00000360426.1:n.4244-47_4244-45del | |
| ENST00000685253.1:c.*1711-47_*1711-45del | ENSP00000509405.1:n.*1711-47_*1711-45del | |
| ENST00000685889.1:n.1903-47_1903-45del | ||
| ENST00000686807.1:n.587-47_587-45del | ||
| ENST00000686954.1:c.*452-47_*452-45del | ENSP00000508416.1:n.*452-47_*452-45del | |
| ENST00000688810.1:c.4196-47_4196-45del | ENSP00000509140.1:n.4196-47_4196-45del | |
| ENST00000689233.1:n.9376-47_9376-45del | ||
| ENST00000690340.1:n.2841-47_2841-45del | ||
| ENST00000692286.1:c.5036-47_5036-45del | ENSP00000509490.1:n.5036-47_5036-45del | |
| ENST00000692396.1:c.5120-47_5120-45del | ENSP00000508605.1:n.5120-47_5120-45del | |
| ENST00000371380.8:c.5168-47_5168-45del MANE Select | ENSP00000360431.2:n.5168-47_5168-45del | |
| ENST00000371385.8:c.4142-47_4142-45del | ENSP00000360438.4:n.4142-47_4142-45del | |
| ENST00000674738.1:c.3723-47_3723-45del | ||
| ENST00000674827.1:c.3284-47_3284-45del | ENSP00000502523.1:n.3284-47_3284-45del | |
| ENST00000675218.1:c.4244-47_4244-45del | ENSP00000501910.1:n.4244-47_4244-45del | |
| ENST00000675487.1:c.*1101-47_*1101-45del | ENSP00000502340.1:n.*1101-47_*1101-45del | |
| ENST00000675718.1:c.4437-47_4437-45del | ||
| ENST00000676102.1:c.4013-47_4013-45del | ENSP00000502811.1:n.4013-47_4013-45del | |
| ENST00000260766.7:c.5168-47_5168-45del | ENSP00000260766.3:n.5168-47_5168-45del | |
| ENST00000371375.1:c.4244-47_4244-45del | ENSP00000360426.1:n.4244-47_4244-45del | |
| ENST00000371380.7:c.5168-47_5168-45del | ENSP00000360431.2:n.5168-47_5168-45del | |
| ENST00000371385.7:c.4244-47_4244-45del | ENSP00000360438.3:n.4244-47_4244-45del | |
| NM_001165979.2:c.4244-47_4244-45del | NP_001159451.1:n.4244-47_4244-45del | |
| NM_001288989.1:c.5120-47_5120-45del | NP_001275918.1:n.5120-47_5120-45del | |
| NM_016341.3:c.5168-47_5168-45del | NP_057425.3:n.5168-47_5168-45del | |
| XM_006717885.2:c.5210-47_5210-45del | XP_006717948.1:n.5210-47_5210-45del | |
| XM_006717886.2:c.5210-47_5210-45del | XP_006717949.1:n.5210-47_5210-45del | |
| XM_006717888.2:c.5207-47_5207-45del | XP_006717951.1:n.5207-47_5207-45del | |
| XM_006717889.2:c.5162-47_5162-45del | XP_006717952.1:n.5162-47_5162-45del | |
| XM_006717890.1:c.4286-47_4286-45del | XP_006717953.1:n.4286-47_4286-45del | |
| XM_011539849.1:c.5210-47_5210-45del | XP_011538151.1:n.5210-47_5210-45del | |
| XM_011539850.1:c.4055-47_4055-45del | XP_011538152.1:n.4055-47_4055-45del | |
| XM_006717885.4:c.5210-47_5210-45del | XP_006717948.1:n.5210-47_5210-45del | |
| XM_006717888.4:c.5207-47_5207-45del | XP_006717951.1:n.5207-47_5207-45del | |
| XM_006717889.4:c.5162-47_5162-45del | XP_006717952.1:n.5162-47_5162-45del | |
| XM_006717890.3:c.4286-47_4286-45del | XP_006717953.1:n.4286-47_4286-45del | |
| XM_011539849.3:c.5210-47_5210-45del | XP_011538151.1:n.5210-47_5210-45del | |
| XM_011539850.3:c.4055-47_4055-45del | XP_011538152.1:n.4055-47_4055-45del | |
| XM_017016310.2:c.5210-47_5210-45del | XP_016871799.1:n.5210-47_5210-45del | |
| XM_017016311.2:c.5210-47_5210-45del | XP_016871800.1:n.5210-47_5210-45del | |
| XM_017016312.2:c.4196-47_4196-45del | XP_016871801.1:n.4196-47_4196-45del | |
| NM_001288989.2:c.5120-47_5120-45del | NP_001275918.1:n.5120-47_5120-45del | |
| NM_016341.4:c.5168-47_5168-45del MANE Select | NP_057425.3:n.5168-47_5168-45del |