Linked Data
dbSNP Id:
rs1830131176
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134842320_134842321del , CM000671.2:g.134842320_134842321del | GRCh38 |
| NC_000009.11:g.137734166_137734167del , CM000671.1:g.137734166_137734167del | GRCh37 |
| NC_000009.10:g.136873987_136873988del | NCBI36 |
| NG_008030.1:g.205515_205516del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.*17_*18del | ENSP00000360885.4:n.*17_*18del | |
| ENST00000371817.8:c.*17_*18del MANE Select | ENSP00000360882.3:n.*17_*18del | |
| ENST00000371817.7:c.*17_*18del | ENSP00000360882.3:n.*17_*18del | |
| ENST00000618395.4:c.*17_*18del | ENSP00000481360.1:n.*17_*18del | |
| NM_000093.4:c.*17_*18del | NP_000084.3:n.*17_*18del | |
| NM_001278074.1:c.*17_*18del | NP_001265003.1:n.*17_*18del | |
| NR_103451.2:n.71-22112_71-22111del | ||
| NM_000093.5:c.*17_*18del MANE Select | NP_000084.3:n.*17_*18del |