Linked Data
gnomAD v4:
9-133644119-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133644120_133644121del , CM000671.2:g.133644120_133644121del | GRCh38 |
| NC_000009.11:g.136509242_136509243del , CM000671.1:g.136509242_136509243del | GRCh37 |
| NC_000009.10:g.135499063_135499064del | NCBI36 |
| NG_008645.1:g.12758_12759del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393056.8:c.922-98_922-97del MANE Select | ENSP00000376776.2:n.922-98_922-97del | |
| ENST00000393056.6:c.922-98_922-97del | ENSP00000376776.2:n.922-98_922-97del | |
| NM_000787.3:c.922-98_922-97del | NP_000778.3:n.922-98_922-97del | |
| NM_000787.4:c.922-98_922-97del MANE Select | NP_000778.3:n.922-98_922-97del |