Linked Data
dbSNP Id:
rs1564102193
gnomAD v2:
9-34649391-C-G
gnomAD v4:
9-34649394-C-G
MyVariant Identifiers:
chr9:g.34649391_34649394delinsGTCT (hg19)
chr9:g.34649394_34649397delinsGTCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34649394C>G , CM000671.2:g.34649394C>G | GRCh38 |
| NC_000009.11:g.34649391C>G , CM000671.1:g.34649391C>G | GRCh37 |
| NC_000009.10:g.34639391C>G | NCBI36 |
| NG_009029.1:g.7757C>G | |
| NG_028966.1:g.2210C>G | |
| NG_009029.2:g.7806C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*493-16C>G | ENSP00000509954.1:n.*493-16C>G | |
| ENST00000378842.8:c.905-16C>G MANE Select | ENSP00000368119.4:n.905-16C>G | |
| ENST00000378842.7:c.905-16C>G | ENSP00000368119.3:n.905-16C>G | |
| ENST00000450095.6:c.578-16C>G | ENSP00000401956.2:n.578-16C>G | |
| ENST00000488412.2:n.473C>G | ||
| ENST00000489643.6:n.1297C>G | ||
| ENST00000554550.5:c.*525-16C>G | ENSP00000451435.1:n.*525-16C>G | |
| ENST00000554638.5:n.1377-16C>G | ||
| ENST00000555020.5:n.1678C>G | ||
| ENST00000555754.1:n.353-16C>G | ||
| ENST00000556278.1:c.432+938C>G | ENSP00000451792.1:n.432+938C>G | |
| ENST00000557706.5:n.1480-16C>G | ||
| NM_000155.3:c.905-16C>G | NP_000146.2:n.905-16C>G | |
| NM_001258332.1:c.578-16C>G | NP_001245261.1:n.578-16C>G | |
| NM_000155.4:c.905-16C>G MANE Select | NP_000146.2:n.905-16C>G | |
| NM_001258332.2:c.578-16C>G | NP_001245261.1:n.578-16C>G |