Linked Data
gnomAD v4:
10-94782147-A-AAGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94782149_94782151dup , CM000672.2:g.94782149_94782151dup | GRCh38 |
| NC_000010.10:g.96541906_96541908dup , CM000672.1:g.96541906_96541908dup | GRCh37 |
| NC_000010.9:g.96531896_96531898dup | NCBI36 |
| NG_008384.2:g.24444_24446dup | |
| NG_008384.3:g.24469_24471dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.819+152_819+154dup MANE Select | ENSP00000360372.3:n.819+152_819+154dup | |
| ENST00000645461.1:n.1872+152_1872+154dup | ||
| ENST00000371321.7:c.819+152_819+154dup | ENSP00000360372.3:n.819+152_819+154dup | |
| ENST00000464755.1:c.1582+152_1582+154dup | ENSP00000483243.1:n.1582+152_1582+154dup | |
| NM_000769.2:c.819+152_819+154dup | NP_000760.1:n.819+152_819+154dup | |
| NM_000769.4:c.819+152_819+154dup MANE Select | NP_000760.1:n.819+152_819+154dup |