Linked Data
dbSNP Id:
rs933529352
gnomAD v2:
9-139581441-GTGACTCCGGGACCCCC-G
gnomAD v3:
9-136686989-GTGACTCCGGGACCCCC-G
gnomAD v4:
9-136686989-GTGACTCCGGGACCCCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136687007_136687022del , CM000671.2:g.136687007_136687022del | GRCh38 |
| NC_000009.11:g.139581459_139581474del , CM000671.1:g.139581459_139581474del | GRCh37 |
| NC_000009.10:g.138701280_138701295del | NCBI36 |
| NG_008090.1:g.5455_5470del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.182+171_182+186del MANE Select | ENSP00000360761.2:n.182+171_182+186del | |
| ENST00000371694.7:c.182+171_182+186del | ENSP00000360759.3:n.182+171_182+186del | |
| ENST00000371696.6:c.182+171_182+186del | ENSP00000360761.2:n.182+171_182+186del | |
| ENST00000470861.1:n.190+171_190+186del | ||
| ENST00000538402.1:c.182+171_182+186del | ENSP00000438919.1:n.182+171_182+186del | |
| NM_001012727.1:c.182+171_182+186del | NP_001012745.1:n.182+171_182+186del | |
| NM_006412.3:c.182+171_182+186del | NP_006403.2:n.182+171_182+186del | |
| NM_006412.4:c.182+171_182+186del MANE Select | NP_006403.2:n.182+171_182+186del | |
| NM_001012727.2:c.182+171_182+186del | NP_001012745.1:n.182+171_182+186del |