Linked Data
gnomAD v4:
2-189002887-A-AAAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189002896_189002898dup , CM000664.2:g.189002896_189002898dup | GRCh38 |
| NC_000002.11:g.189867622_189867624dup , CM000664.1:g.189867622_189867624dup | GRCh37 |
| NC_000002.10:g.189575867_189575869dup | NCBI36 |
| NG_007404.1:g.33524_33526dup , LRG_3:g.33524_33526dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.2347-59_2347-57dup | ENSP00000415346.2:n.2347-59_2347-57dup | |
| ENST00000304636.9:c.2446-59_2446-57dup MANE Select | ENSP00000304408.4:n.2446-59_2446-57dup | |
| ENST00000304636.7:c.2446-59_2446-57dup | ENSP00000304408.3:n.2446-59_2446-57dup | |
| ENST00000317840.9:c.2446-59_2446-57dup | ENSP00000315243.6:n.2446-59_2446-57dup | |
| NM_000090.3:c.2446-59_2446-57dup , LRG_3t1:c.2446-59_2446-57dup | NP_000081.1:n.2446-59_2446-57dup | |
| NM_000090.4:c.2446-59_2446-57dup MANE Select | NP_000081.2:n.2446-59_2446-57dup |