Linked Data
ClinVar Variation Id:
375803
dbSNP Id:
rs1057519665
gnomAD v4:
19-11107509-AGTGCGGTGAGTCTCG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11107514_11107528del , CM000681.2:g.11107514_11107528del | GRCh38 |
| NC_000019.9:g.11218190_11218204del , CM000681.1:g.11218190_11218204del | GRCh37 |
| NC_000019.8:g.11079190_11079204del | NCBI36 |
| NG_009060.1:g.23134_23148del , LRG_274:g.23134_23148del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252444.10:c.1198_1198+14del | ||
| ENST00000559340.2:c.940_940+14del | ||
| ENST00000560467.2:c.940_940+14del | ||
| ENST00000558518.6:c.940_940+14del | ||
| ENST00000252444.9:c.1194_1194+14del | ||
| ENST00000455727.6:c.436_436+14del | ||
| ENST00000535915.5:c.817_817+14del | ||
| ENST00000545707.5:c.559_559+14del | ||
| ENST00000557933.5:c.940_940+14del | ||
| ENST00000558013.5:c.940_940+14del | ||
| ENST00000558518.5:c.940_940+14del | ||
| ENST00000560467.1:c.540_540+14del | ||
| NM_000527.4:c.940_940+14del , LRG_274t1:c.940_940+14del | ||
| NM_001195798.1:c.940_940+14del | ||
| NM_001195799.1:c.817_817+14del | ||
| NM_001195800.1:c.436_436+14del | ||
| NM_001195803.1:c.559_559+14del | ||
| XM_011528010.1:c.940_940+14del | ||
| XM_011528011.1:c.559_559+14del | ||
| XR_244074.2:n.1090_1090+14del | ||
| XM_011528010.2:c.940_940+14del | ||
| XR_001753685.2:n.1057_1057+14del | ||
| XR_001753686.2:n.1057_1057+14del | ||
| NM_000527.5:c.940_940+14del | ||
| NM_001195798.2:c.940_940+14del | ||
| NM_001195799.2:c.817_817+14del | ||
| NM_001195800.2:c.436_436+14del | ||
| NM_001195803.2:c.559_559+14del |