Linked Data
dbSNP Id:
rs1485553867
gnomAD v3:
10-72009701-AGTTGGTTGCT-A
gnomAD v4:
10-72009701-AGTTGGTTGCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72009704_72009713del , CM000672.2:g.72009704_72009713del | GRCh38 |
| NC_000010.10:g.73769462_73769471del , CM000672.1:g.73769462_73769471del | GRCh37 |
| NC_000010.9:g.73439468_73439477del | NCBI36 |
| NG_012635.1:g.50343_50352del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373115.5:c.*1233_*1242del MANE Select | ENSP00000362207.4:n.*1233_*1242del | |
| ENST00000373115.4:c.*1233_*1242del | ENSP00000362207.4:n.*1233_*1242del | |
| NM_004273.4:c.*1233_*1242del | NP_004264.2:n.*1233_*1242del | |
| XM_006718075.2:c.*1233_*1242del | XP_006718138.1:n.*1233_*1242del | |
| XM_011540369.1:c.*1233_*1242del | XP_011538671.1:n.*1233_*1242del | |
| XM_006718075.4:c.*1233_*1242del | XP_006718138.1:n.*1233_*1242del | |
| XM_011540369.2:c.*1233_*1242del | XP_011538671.1:n.*1233_*1242del | |
| NM_004273.5:c.*1233_*1242del MANE Select | NP_004264.2:n.*1233_*1242del |