Linked Data
dbSNP Id:
rs775348139
ExAC:
9:139569174 CAT / C
gnomAD v2:
9-139569174-CAT-C
gnomAD v3:
9-136674722-CAT-C
gnomAD v4:
9-136674722-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136674723_136674724del , CM000671.2:g.136674723_136674724del | GRCh38 |
| NC_000009.11:g.139569175_139569176del , CM000671.1:g.139569175_139569176del | GRCh37 |
| NC_000009.10:g.138688996_138688997del | NCBI36 |
| NG_008090.1:g.17736_17737del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.661+11_661+12del MANE Select | ENSP00000360761.2:n.661+11_661+12del | |
| ENST00000371694.7:c.565+11_565+12del | ENSP00000360759.3:n.565+11_565+12del | |
| ENST00000371696.6:c.661+11_661+12del | ENSP00000360761.2:n.661+11_661+12del | |
| ENST00000472820.1:n.589+11_589+12del | ||
| ENST00000538402.1:c.661+11_661+12del | ENSP00000438919.1:n.661+11_661+12del | |
| NM_001012727.1:c.565+11_565+12del | NP_001012745.1:n.565+11_565+12del | |
| NM_006412.3:c.661+11_661+12del | NP_006403.2:n.661+11_661+12del | |
| NM_006412.4:c.661+11_661+12del MANE Select | NP_006403.2:n.661+11_661+12del | |
| NM_001012727.2:c.565+11_565+12del | NP_001012745.1:n.565+11_565+12del |