Linked Data
dbSNP Id:
rs1889665854
gnomAD v3:
14-75008995-T-TCAGTTTTA
gnomAD v4:
14-75008995-T-TCAGTTTTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75008997_75009004dup , CM000676.2:g.75008997_75009004dup | GRCh38 |
| NC_000014.8:g.75475700_75475707dup , CM000676.1:g.75475700_75475707dup | GRCh37 |
| NC_000014.7:g.74545453_74545460dup | NCBI36 |
| NG_013333.1:g.11089_11096dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.899-34_899-27dup MANE Select | ENSP00000266126.5:n.899-34_899-27dup | |
| ENST00000266126.9:c.899-34_899-27dup | ENSP00000266126.5:n.899-34_899-27dup | |
| ENST00000556668.1:n.479-34_479-27dup | ||
| NM_014239.3:c.899-34_899-27dup | NP_055054.1:n.899-34_899-27dup | |
| NM_014239.4:c.899-34_899-27dup MANE Select | NP_055054.1:n.899-34_899-27dup |