Linked Data
ClinVar Variation Id:
2738653
ClinVar RCV Id:
RCV003502099
dbSNP Id:
rs757538747
ExAC:
9:34649387 GTC / G
gnomAD v2:
9-34649387-GTC-G
gnomAD v4:
9-34649390-GTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34649396_34649397del , CM000671.2:g.34649396_34649397del | GRCh38 |
| NC_000009.11:g.34649393_34649394del , CM000671.1:g.34649393_34649394del | GRCh37 |
| NC_000009.10:g.34639393_34639394del | NCBI36 |
| NG_009029.1:g.7759_7760del | |
| NG_028966.1:g.2212_2213del | |
| NG_009029.2:g.7808_7809del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000691183.1:c.*493-14_*493-13del | ENSP00000509954.1:n.*493-14_*493-13del | |
| ENST00000378842.8:c.905-14_905-13del MANE Select | ENSP00000368119.4:n.905-14_905-13del | |
| ENST00000378842.7:c.905-14_905-13del | ENSP00000368119.3:n.905-14_905-13del | |
| ENST00000450095.6:c.578-14_578-13del | ENSP00000401956.2:n.578-14_578-13del | |
| ENST00000488412.2:n.475_476del | ||
| ENST00000489643.6:n.1299_1300del | ||
| ENST00000554550.5:c.*525-14_*525-13del | ENSP00000451435.1:n.*525-14_*525-13del | |
| ENST00000554638.5:n.1377-14_1377-13del | ||
| ENST00000555020.5:n.1680_1681del | ||
| ENST00000555754.1:n.353-14_353-13del | ||
| ENST00000556278.1:c.432+940_432+941del | ENSP00000451792.1:n.432+940_432+941del | |
| ENST00000557706.5:n.1480-14_1480-13del | ||
| NM_000155.3:c.905-14_905-13del | NP_000146.2:n.905-14_905-13del | |
| NM_001258332.1:c.578-14_578-13del | NP_001245261.1:n.578-14_578-13del | |
| NM_000155.4:c.905-14_905-13del MANE Select | NP_000146.2:n.905-14_905-13del | |
| NM_001258332.2:c.578-14_578-13del | NP_001245261.1:n.578-14_578-13del |