Linked Data
ClinVar Variation Id:
438428
dbSNP Id:
rs762812025
ExAC:
1:17349183 CCT / C
gnomAD v2:
1-17349183-CCT-C
gnomAD v4:
1-17022688-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022691_17022692del , CM000663.2:g.17022691_17022692del | GRCh38 |
| NC_000001.10:g.17349186_17349187del , CM000663.1:g.17349186_17349187del | GRCh37 |
| NC_000001.9:g.17221773_17221774del | NCBI36 |
| NG_012340.1:g.36481_36482del , LRG_316:g.36481_36482del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.512_513del | ENSP00000481376.2:p.Glu171GlyfsTer27 | |
| ENST00000491274.6:c.641_642del | ENSP00000480482.2:p.Glu214GlyfsTer27 | |
| ENST00000375499.8:c.683_684del MANE Select | ENSP00000364649.3:p.Glu228GlyfsTer27 | |
| ENST00000375499.7:c.683_684del | ENSP00000364649.3:p.Glu228GlyfsTer27 | |
| ENST00000475049.5:n.108_109del | ||
| ENST00000485092.5:n.347_348del | ||
| ENST00000485515.5:n.617_618del | ||
| NM_003000.2:c.683_684del , LRG_316t1:c.683_684del | NP_002991.2:p.Glu228GlyfsTer27 | |
| NM_003000.3:c.683_684del MANE Select | NP_002991.2:p.Glu228GlyfsTer27 |