Linked Data
gnomAD v4:
9-78304687-TTGACCACA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.78304691_78304698del , CM000671.2:g.78304691_78304698del | GRCh38 |
| NC_000009.11:g.80919607_80919614del , CM000671.1:g.80919607_80919614del | GRCh37 |
| NC_000009.10:g.80109427_80109434del | NCBI36 |
| NG_012165.1:g.12549_12556del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376588.4:c.192-44_192-37del MANE Select | ENSP00000365773.3:n.192-44_192-37del | |
| ENST00000347159.6:c.192-44_192-37del | ENSP00000317606.2:n.192-44_192-37del | |
| ENST00000376588.3:c.192-44_192-37del | ENSP00000365773.3:n.192-44_192-37del | |
| NM_021154.4:c.192-44_192-37del | NP_066977.1:n.192-44_192-37del | |
| NM_058179.3:c.192-44_192-37del | NP_478059.1:n.192-44_192-37del | |
| NM_058179.4:c.192-44_192-37del MANE Select | NP_478059.1:n.192-44_192-37del | |
| NM_021154.5:c.192-44_192-37del | NP_066977.1:n.192-44_192-37del |