Linked Data
dbSNP Id:
rs1567291241
gnomAD v3:
16-17138305-TGTTGGGAAGGCATC-T
gnomAD v4:
16-17138305-TGTTGGGAAGGCATC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.17138306_17138319del , CM000678.2:g.17138306_17138319del | GRCh38 |
| NC_000016.9:g.17232163_17232176del , CM000678.1:g.17232163_17232176del | GRCh37 |
| NC_000016.8:g.17139664_17139677del | NCBI36 |
| NG_015843.1:g.337563_337576del | |
| NG_015843.2:g.337563_337576del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261381.7:c.1764+36_1764+49del MANE Select | ENSP00000261381.6:n.1764+36_1764+49del | |
| ENST00000261381.6:c.1764+36_1764+49del | ENSP00000261381.6:n.1764+36_1764+49del | |
| NM_022166.3:c.1764+36_1764+49del | NP_071449.1:n.1764+36_1764+49del | |
| XM_011522574.1:c.1764+36_1764+49del | XP_011520876.1:n.1764+36_1764+49del | |
| XR_933140.1:n.400_413del | ||
| XR_933141.1:n.239_252del | ||
| XR_933143.1:n.301_314del | ||
| NR_135179.1:n.211_224del | ||
| XM_017023539.2:c.1764+36_1764+49del | XP_016879028.1:n.1764+36_1764+49del | |
| XM_017023540.2:c.1764+36_1764+49del | XP_016879029.1:n.1764+36_1764+49del | |
| NM_022166.4:c.1764+36_1764+49del MANE Select | NP_071449.1:n.1764+36_1764+49del |