Linked Data
gnomAD v4:
1-215867193-A-AAAGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215867195_215867198dup , CM000663.2:g.215867195_215867198dup | GRCh38 |
| NC_000001.10:g.216040537_216040540dup , CM000663.1:g.216040537_216040540dup | GRCh37 |
| NC_000001.9:g.214107160_214107163dup | NCBI36 |
| NG_009497.1:g.561200_561203dup | |
| NG_009497.2:g.561252_561255dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.8682-27_8682-24dup MANE Select | ENSP00000305941.3:n.8682-27_8682-24dup | |
| ENST00000674083.1:c.8682-27_8682-24dup | ENSP00000501296.1:n.8682-27_8682-24dup | |
| ENST00000307340.7:c.8682-27_8682-24dup | ENSP00000305941.3:n.8682-27_8682-24dup | |
| NM_206933.2:c.8682-27_8682-24dup | NP_996816.2:n.8682-27_8682-24dup | |
| NM_206933.3:c.8682-27_8682-24dup | NP_996816.2:n.8682-27_8682-24dup | |
| NM_206933.4:c.8682-27_8682-24dup MANE Select | NP_996816.3:n.8682-27_8682-24dup |