Linked Data
dbSNP Id:
rs1343820134
gnomAD v2:
1-215848790-G-GATTTTA
gnomAD v4:
1-215675448-G-GATTTTA
MyVariant Identifiers:
chr1:g.215848790_215848791insATTTTA (hg19)
chr1:g.215675448_215675449insATTTTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215675449_215675450insTTTTAA , CM000663.2:g.215675449_215675450insTTTTAA | GRCh38 |
| NC_000001.10:g.215848791_215848792insTTTTAA , CM000663.1:g.215848791_215848792insTTTTAA | GRCh37 |
| NC_000001.9:g.213915414_213915415insTTTTAA | NCBI36 |
| NG_009497.1:g.752948_752949insTAAAAT | |
| NG_009497.2:g.753000_753001insTAAAAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.12462_12463insTAAAAT | ||
| ENST00000674083.1:c.12462_12463insTAAAAT | ||
| ENST00000307340.7:c.12462_12463insTAAAAT | ||
| NM_206933.2:c.12462_12463insTAAAAT | ||
| NM_206933.3:c.12462_12463insTAAAAT | ||
| NM_206933.4:c.12462_12463insTAAAAT |