Linked Data
gnomAD v4:
1-171652380-T-TCCAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652380_171652381insCCAG , CM000663.2:g.171652380_171652381insCCAG | GRCh38 |
| NC_000001.10:g.171621520_171621521insCCAG , CM000663.1:g.171621520_171621521insCCAG | GRCh37 |
| NC_000001.9:g.169888143_169888144insCCAG | NCBI36 |
| NG_008859.1:g.5253_5254insCTGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.231_232insCTGG MANE Select | ENSP00000037502.5:p.Ser78LeufsTer? | |
| ENST00000638471.1:c.130+101_130+102insCTGG | ENSP00000491206.1:n.130+101_130+102insCTGG | |
| ENST00000037502.10:c.231_232insCTGG | ENSP00000037502.5:p.Ser78LeufsTer? | |
| ENST00000614688.1:c.231_232insCTGG | ENSP00000478680.1:p.Ser78LeufsTer? | |
| NM_000261.1:c.231_232insCTGG | NP_000252.1:p.Ser78LeufsTer? | |
| NM_000261.2:c.231_232insCTGG MANE Select | NP_000252.1:p.Ser78LeufsTer? |