Linked Data
dbSNP Id:
rs879657795
gnomAD v3:
10-94298167-GAGCCACCACACCC-G
gnomAD v4:
10-94298167-GAGCCACCACACCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94298179_94298191del , CM000672.2:g.94298179_94298191del | GRCh38 |
| NC_000010.10:g.96057936_96057948del , CM000672.1:g.96057936_96057948del | GRCh37 |
| NC_000010.9:g.96047926_96047938del | NCBI36 |
| NG_015799.1:g.309191_309203del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371375.2:c.4244-200_4244-188del | ENSP00000360426.1:n.4244-200_4244-188del | |
| ENST00000685253.1:c.*1711-200_*1711-188del | ENSP00000509405.1:n.*1711-200_*1711-188de... | |
| ENST00000685889.1:n.1903-200_1903-188del | ||
| ENST00000686807.1:n.587-200_587-188del | ||
| ENST00000686954.1:c.*452-200_*452-188del | ENSP00000508416.1:n.*452-200_*452-188del | |
| ENST00000688810.1:c.4196-200_4196-188del | ENSP00000509140.1:n.4196-200_4196-188del | |
| ENST00000689233.1:n.9376-200_9376-188del | ||
| ENST00000690340.1:n.2841-200_2841-188del | ||
| ENST00000692286.1:c.5036-200_5036-188del | ENSP00000509490.1:n.5036-200_5036-188del | |
| ENST00000692396.1:c.5120-200_5120-188del | ENSP00000508605.1:n.5120-200_5120-188del | |
| ENST00000371380.8:c.5168-200_5168-188del MANE Select | ENSP00000360431.2:n.5168-200_5168-188del | |
| ENST00000371385.8:c.4142-200_4142-188del | ENSP00000360438.4:n.4142-200_4142-188del | |
| ENST00000674738.1:c.3723-200_3723-188del | ||
| ENST00000674827.1:c.3284-200_3284-188del | ENSP00000502523.1:n.3284-200_3284-188del | |
| ENST00000675218.1:c.4244-200_4244-188del | ENSP00000501910.1:n.4244-200_4244-188del | |
| ENST00000675487.1:c.*1101-200_*1101-188del | ENSP00000502340.1:n.*1101-200_*1101-188de... | |
| ENST00000675718.1:c.4437-200_4437-188del | ||
| ENST00000676102.1:c.4013-200_4013-188del | ENSP00000502811.1:n.4013-200_4013-188del | |
| ENST00000260766.7:c.5168-200_5168-188del | ENSP00000260766.3:n.5168-200_5168-188del | |
| ENST00000371375.1:c.4244-200_4244-188del | ENSP00000360426.1:n.4244-200_4244-188del | |
| ENST00000371380.7:c.5168-200_5168-188del | ENSP00000360431.2:n.5168-200_5168-188del | |
| ENST00000371385.7:c.4244-200_4244-188del | ENSP00000360438.3:n.4244-200_4244-188del | |
| NM_001165979.2:c.4244-200_4244-188del | NP_001159451.1:n.4244-200_4244-188del | |
| NM_001288989.1:c.5120-200_5120-188del | NP_001275918.1:n.5120-200_5120-188del | |
| NM_016341.3:c.5168-200_5168-188del | NP_057425.3:n.5168-200_5168-188del | |
| XM_006717885.2:c.5210-200_5210-188del | XP_006717948.1:n.5210-200_5210-188del | |
| XM_006717886.2:c.5210-200_5210-188del | XP_006717949.1:n.5210-200_5210-188del | |
| XM_006717888.2:c.5207-200_5207-188del | XP_006717951.1:n.5207-200_5207-188del | |
| XM_006717889.2:c.5162-200_5162-188del | XP_006717952.1:n.5162-200_5162-188del | |
| XM_006717890.1:c.4286-200_4286-188del | XP_006717953.1:n.4286-200_4286-188del | |
| XM_011539849.1:c.5210-200_5210-188del | XP_011538151.1:n.5210-200_5210-188del | |
| XM_011539850.1:c.4055-200_4055-188del | XP_011538152.1:n.4055-200_4055-188del | |
| XM_006717885.4:c.5210-200_5210-188del | XP_006717948.1:n.5210-200_5210-188del | |
| XM_006717888.4:c.5207-200_5207-188del | XP_006717951.1:n.5207-200_5207-188del | |
| XM_006717889.4:c.5162-200_5162-188del | XP_006717952.1:n.5162-200_5162-188del | |
| XM_006717890.3:c.4286-200_4286-188del | XP_006717953.1:n.4286-200_4286-188del | |
| XM_011539849.3:c.5210-200_5210-188del | XP_011538151.1:n.5210-200_5210-188del | |
| XM_011539850.3:c.4055-200_4055-188del | XP_011538152.1:n.4055-200_4055-188del | |
| XM_017016310.2:c.5210-200_5210-188del | XP_016871799.1:n.5210-200_5210-188del | |
| XM_017016311.2:c.5210-200_5210-188del | XP_016871800.1:n.5210-200_5210-188del | |
| XM_017016312.2:c.4196-200_4196-188del | XP_016871801.1:n.4196-200_4196-188del | |
| NM_001288989.2:c.5120-200_5120-188del | NP_001275918.1:n.5120-200_5120-188del | |
| NM_016341.4:c.5168-200_5168-188del MANE Select | NP_057425.3:n.5168-200_5168-188del |