Linked Data
dbSNP Id:
rs1682507060
gnomAD v3:
2-38075082-TGGCGCGCTCG-T
gnomAD v4:
2-38075082-TGGCGCGCTCG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38075083_38075092del , CM000664.2:g.38075083_38075092del | GRCh38 |
| NC_000002.11:g.38302226_38302235del , CM000664.1:g.38302226_38302235del | GRCh37 |
| NC_000002.10:g.38155730_38155739del | NCBI36 |
| NG_008386.2:g.6010_6019del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.297_306del | ENSP00000478839.2:p.Glu100SerfsTer? | |
| ENST00000610745.5:c.297_306del MANE Select | ENSP00000478561.1:p.Glu100SerfsTer? | |
| ENST00000490576.1:c.297_306del | ENSP00000478839.1:p.Glu100SerfsTer? | |
| ENST00000494864.1:c.-70-3782_-70-3773del | ENSP00000479876.1:n.-70-3782_-70-3773del | |
| ENST00000610745.4:c.297_306del | ENSP00000478561.1:p.Glu100SerfsTer? | |
| ENST00000613082.1:n.376-684_376-675del | ||
| ENST00000614273.1:c.297_306del | ENSP00000483678.1:p.Glu100SerfsTer? | |
| NM_000104.3:c.297_306del | NP_000095.2:p.Glu100SerfsTer? | |
| NM_000104.4:c.297_306del MANE Select | NP_000095.2:p.Glu100SerfsTer? |