Linked Data
dbSNP Id:
rs1458333755
gnomAD v2:
10-96748992-CTG-C
gnomAD v3:
10-94989235-CTG-C
gnomAD v4:
10-94989235-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94989237_94989238del , CM000672.2:g.94989237_94989238del | GRCh38 |
| NC_000010.10:g.96748994_96748995del , CM000672.1:g.96748994_96748995del | GRCh37 |
| NC_000010.9:g.96738984_96738985del | NCBI36 |
| NG_008385.1:g.55580_55581del | |
| NG_008385.2:g.56080_56081del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.*209_*210del MANE Select | ENSP00000260682.6:n.*209_*210del | |
| ENST00000643112.1:c.*691_*692del | ENSP00000496202.1:n.*691_*692del | |
| ENST00000260682.6:c.*209_*210del | ENSP00000260682.6:n.*209_*210del | |
| NM_000771.3:c.*209_*210del | NP_000762.2:n.*209_*210del | |
| NM_000771.4:c.*209_*210del MANE Select | NP_000762.2:n.*209_*210del |