Linked Data
dbSNP Id:
rs1564003389
gnomAD v2:
8-41790684-GGCTGCGGCTGCT-G
gnomAD v4:
8-41933166-GGCTGCGGCTGCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.41933168_41933179del , CM000670.2:g.41933168_41933179del | GRCh38 |
| NC_000008.10:g.41790686_41790697del , CM000670.1:g.41790686_41790697del | GRCh37 |
| NC_000008.9:g.41909843_41909854del | NCBI36 |
| NG_042093.1:g.123849_123860del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265713.8:c.5042_5053del MANE Select | ENSP00000265713.2:p.Gln1681_Gln1684del | |
| ENST00000396930.4:c.5042_5053del | ENSP00000380136.3:p.Gln1681_Gln1684del | |
| ENST00000406337.6:c.5048_5059del | ENSP00000385888.2:p.Gln1683_Gln1686del | |
| ENST00000649817.1:c.3723_3734del | ||
| ENST00000265713.6:c.5042_5053del | ENSP00000265713.2:p.Gln1681_Gln1684del | |
| ENST00000396930.3:c.5042_5053del | ENSP00000380136.3:p.Gln1681_Gln1684del | |
| ENST00000406337.5:c.5042_5053del | ENSP00000385888.1:p.Gln1681_Gln1684del | |
| NM_001099412.1:c.5042_5053del | NP_001092882.1:p.Gln1681_Gln1684del | |
| NM_001099413.1:c.5042_5053del | NP_001092883.1:p.Gln1681_Gln1684del | |
| NM_006766.3:c.5042_5053del | NP_006757.2:p.Gln1681_Gln1684del | |
| NM_006766.4:c.5042_5053del | NP_006757.2:p.Gln1681_Gln1684del | |
| XM_011544656.1:c.5174_5185del | XP_011542958.1:p.Gln1725_Gln1728del | |
| XM_011544657.1:c.5174_5185del | XP_011542959.1:p.Gln1725_Gln1728del | |
| XM_011544658.1:c.5174_5185del | XP_011542960.1:p.Gln1725_Gln1728del | |
| XM_011544659.1:c.5153_5164del | XP_011542961.1:p.Gln1718_Gln1721del | |
| XM_011544660.1:c.5060_5071del | XP_011542962.1:p.Gln1687_Gln1690del | |
| XM_011544656.2:c.5174_5185del | XP_011542958.1:p.Gln1725_Gln1728del | |
| XM_011544657.3:c.5174_5185del | XP_011542959.1:p.Gln1725_Gln1728del | |
| XM_011544658.3:c.5174_5185del | XP_011542960.1:p.Gln1725_Gln1728del | |
| XM_011544659.2:c.5153_5164del | XP_011542961.1:p.Gln1718_Gln1721del | |
| XM_017013863.1:c.5042_5053del | XP_016869352.1:p.Gln1681_Gln1684del | |
| XM_017013864.2:c.5042_5053del | XP_016869353.1:p.Gln1681_Gln1684del | |
| XM_024447285.1:c.3614_3625del | XP_024303053.1:p.Gln1205_Gln1208del | |
| NM_006766.5:c.5042_5053del MANE Select | NP_006757.2:p.Gln1681_Gln1684del |