Linked Data
gnomAD v4:
10-114044140-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044145dup , CM000672.2:g.114044145dup | GRCh38 |
| NC_000010.10:g.115803904dup , CM000672.1:g.115803904dup | GRCh37 |
| NC_000010.9:g.115793894dup | NCBI36 |
| NG_012187.1:g.5099dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.13dup MANE Select | ENSP00000358301.2:p.Val5GlyfsTer11 | |
| ENST00000369295.3:c.13dup | ENSP00000358301.2:p.Val5GlyfsTer11 | |
| NM_000684.2:c.13dup | NP_000675.1:p.Val5GlyfsTer11 | |
| NM_000684.3:c.13dup MANE Select | NP_000675.1:p.Val5GlyfsTer11 |