Linked Data
gnomAD v4:
9-129814230-GAAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814233_129814236del , CM000671.2:g.129814233_129814236del | GRCh38 |
| NC_000009.11:g.132576512_132576515del , CM000671.1:g.132576512_132576515del | GRCh37 |
| NC_000009.10:g.131616333_131616336del | NCBI36 |
| NG_008049.1:g.14929_14932del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.749-12_749-9del MANE Select | ENSP00000345719.4:n.749-12_749-9del | |
| ENST00000651202.1:c.*17-12_*17-9del | ENSP00000498222.1:n.*17-12_*17-9del | |
| ENST00000351698.4:c.749-12_749-9del | ENSP00000345719.4:n.749-12_749-9del | |
| ENST00000474192.1:n.333-12_333-9del | ||
| NM_000113.2:c.749-12_749-9del | NP_000104.1:n.749-12_749-9del | |
| XR_929731.1:n.1076-12_1076-9del | ||
| XR_929731.3:n.944-12_944-9del | ||
| NM_000113.3:c.749-12_749-9del MANE Select | NP_000104.1:n.749-12_749-9del |