Linked Data
dbSNP Id:
rs1481317370
gnomAD v2:
16-17228635-TGCTGGGG-T
gnomAD v4:
16-17134778-TGCTGGGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.17134780_17134786del , CM000678.2:g.17134780_17134786del | GRCh38 |
| NC_000016.9:g.17228637_17228643del , CM000678.1:g.17228637_17228643del | GRCh37 |
| NC_000016.8:g.17136138_17136144del | NCBI36 |
| NG_015843.1:g.341097_341103del | |
| NG_015843.2:g.341097_341103del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261381.7:c.1765-50_1765-44del MANE Select | ENSP00000261381.6:n.1765-50_1765-44del | |
| ENST00000261381.6:c.1765-50_1765-44del | ENSP00000261381.6:n.1765-50_1765-44del | |
| NM_022166.3:c.1765-50_1765-44del | NP_071449.1:n.1765-50_1765-44del | |
| XM_011522574.1:c.1765-50_1765-44del | XP_011520876.1:n.1765-50_1765-44del | |
| XR_933140.1:n.82+230_82+236del | ||
| XR_933141.1:n.75+230_75+236del | ||
| XR_933143.1:n.82+230_82+236del | ||
| NR_135179.1:n.47+230_47+236del | ||
| XM_017023539.2:c.1765-50_1765-44del | XP_016879028.1:n.1765-50_1765-44del | |
| XM_017023540.2:c.1765-50_1765-44del | XP_016879029.1:n.1765-50_1765-44del | |
| NM_022166.4:c.1765-50_1765-44del MANE Select | NP_071449.1:n.1765-50_1765-44del |