Linked Data
gnomAD v4:
10-94942077-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942081_94942082del , CM000672.2:g.94942081_94942082del | GRCh38 |
| NC_000010.10:g.96701838_96701839del , CM000672.1:g.96701838_96701839del | GRCh37 |
| NC_000010.9:g.96691828_96691829del | NCBI36 |
| NG_008385.1:g.8424_8425del | |
| NG_008385.2:g.8924_8925del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.331+61_331+62del MANE Select | ENSP00000260682.6:n.331+61_331+62del | |
| ENST00000643112.1:c.331+61_331+62del | ENSP00000496202.1:n.331+61_331+62del | |
| ENST00000645207.1:n.484+61_484+62del | ||
| ENST00000260682.6:c.331+61_331+62del | ENSP00000260682.6:n.331+61_331+62del | |
| ENST00000461906.1:n.356+61_356+62del | ||
| ENST00000473496.1:n.102+61_102+62del | ||
| NM_000771.3:c.331+61_331+62del | NP_000762.2:n.331+61_331+62del | |
| NM_000771.4:c.331+61_331+62del MANE Select | NP_000762.2:n.331+61_331+62del |