Linked Data
ClinVar Variation Id:
243031
ClinVar Variation Id:
1322084
ClinVar RCV Id:
RCV001780504
dbSNP Id:
rs763258280
ExAC:
17:4802185 TC / T
gnomAD v2:
17-4802185-TC-T
gnomAD v3:
17-4898890-TC-T
gnomAD v4:
17-4898890-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898892del , CM000679.2:g.4898892del | GRCh38 |
| NC_000017.10:g.4802187del , CM000679.1:g.4802187del | GRCh37 |
| NC_000017.9:g.4742966del | NCBI36 |
| NG_008029.2:g.9185del | |
| NG_028005.1:g.70553del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649488.2:c.1327del | ||
| ENST00000649830.1:c.503del | ENSP00000496907.1:p.Gly168GlufsTer? | |
| ENST00000652550.1:n.1057-4del | ||
| ENST00000293780.4:c.1327del | ||
| ENST00000572438.1:n.1013del | ||
| NM_000080.3:c.1327del | ||
| NM_000080.4:c.1327del | ||
| XM_017024115.1:c.1291del |