Linked Data
gnomAD v4:
2-240873167-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873169del , CM000664.2:g.240873169del | GRCh38 |
| NC_000002.11:g.241812586del , CM000664.1:g.241812586del | GRCh37 |
| NC_000002.10:g.241461259del | NCBI36 |
| NG_008005.1:g.9425del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.595+120del MANE Select | ENSP00000302620.3:n.595+120del | |
| ENST00000307503.3:c.595+120del | ENSP00000302620.3:n.595+120del | |
| ENST00000472436.1:n.735del | ||
| ENST00000476698.1:n.332+120del | ||
| NM_000030.2:c.595+120del | NP_000021.1:n.595+120del | |
| NM_000030.3:c.595+120del MANE Select | NP_000021.1:n.595+120del |