Linked Data
gnomAD v4:
1-171652275-T-TCTCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652276_171652279dup , CM000663.2:g.171652276_171652279dup | GRCh38 |
| NC_000001.10:g.171621416_171621419dup , CM000663.1:g.171621416_171621419dup | GRCh37 |
| NC_000001.9:g.169888039_169888042dup | NCBI36 |
| NG_008859.1:g.5355_5358dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.333_336dup MANE Select | ENSP00000037502.5:p.Thr113GlyfsTer? | |
| ENST00000638471.1:c.130+203_130+206dup | ENSP00000491206.1:n.130+203_130+206dup | |
| ENST00000037502.10:c.333_336dup | ENSP00000037502.5:p.Thr113GlyfsTer? | |
| ENST00000614688.1:c.333_336dup | ENSP00000478680.1:p.Thr113GlyfsTer? | |
| NM_000261.1:c.333_336dup | NP_000252.1:p.Thr113GlyfsTer? | |
| NM_000261.2:c.333_336dup MANE Select | NP_000252.1:p.Thr113GlyfsTer? |