Linked Data
ClinVar Variation Id:
422697
dbSNP Id:
rs758282201
ExAC:
18:29099774 CA / C
gnomAD v2:
18-29099774-CA-C
gnomAD v4:
18-31519811-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31519812del , CM000680.2:g.31519812del | GRCh38 |
| NC_000018.9:g.29099775del , CM000680.1:g.29099775del | GRCh37 |
| NC_000018.8:g.27353773del | NCBI36 |
| NG_007072.3:g.26571del , LRG_397:g.26571del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682241.2:c.91del | ENSP00000507600.2:p.Thr31GlnfsTer14 | |
| ENST00000683654.1:c.91del | ENSP00000506971.1:p.Thr31GlnfsTer14 | |
| ENST00000261590.13:c.91del MANE Select | ENSP00000261590.8:p.Thr31GlnfsTer14 | |
| ENST00000261590.12:c.91del | ENSP00000261590.8:p.Thr31GlnfsTer14 | |
| ENST00000585206.1:c.91del | ENSP00000462503.1:p.Thr31GlnfsTer14 | |
| NM_001943.3:c.91del , LRG_397t1:c.91del | NP_001934.2:p.Thr31GlnfsTer14 | |
| NM_001943.4:c.91del | NP_001934.2:p.Thr31GlnfsTer14 | |
| XM_024451095.1:c.-444del | XP_024306863.1:n.-444del | |
| NM_001943.5:c.91del MANE Select | NP_001934.2:p.Thr31GlnfsTer14 |