Linked Data
gnomAD v4:
9-129818980-CTTCTACCACTAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818981_129818992del , CM000671.2:g.129818981_129818992del | GRCh38 |
| NC_000009.11:g.132581260_132581271del , CM000671.1:g.132581260_132581271del | GRCh37 |
| NC_000009.10:g.131621081_131621092del | NCBI36 |
| NG_008049.1:g.10171_10182del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.445-72_445-61del MANE Select | ENSP00000345719.4:n.445-72_445-61del | |
| ENST00000651202.1:c.541-72_541-61del | ENSP00000498222.1:n.541-72_541-61del | |
| ENST00000351698.4:c.445-72_445-61del | ENSP00000345719.4:n.445-72_445-61del | |
| ENST00000473604.2:n.555-72_555-61del | ||
| NM_000113.2:c.445-72_445-61del | NP_000104.1:n.445-72_445-61del | |
| XR_929731.1:n.605-72_605-61del | ||
| XR_929731.3:n.473-72_473-61del | ||
| NM_000113.3:c.445-72_445-61del MANE Select | NP_000104.1:n.445-72_445-61del |