Linked Data
dbSNP Id:
rs1876007645
gnomAD v3:
12-117339708-GAGATTAGAGCTAAAA-G
gnomAD v4:
12-117339708-GAGATTAGAGCTAAAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.117339712_117339726del , CM000674.2:g.117339712_117339726del | GRCh38 |
| NC_000012.11:g.117777517_117777531del , CM000674.1:g.117777517_117777531del | GRCh37 |
| NC_000012.10:g.116261900_116261914del | NCBI36 |
| NG_011991.2:g.27055_27069del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317775.11:c.-420-8234_-420-8220del MANE Select | ENSP00000320758.6:n.-420-8234_-420-8220del | |
| ENST00000317775.10:c.-420-8234_-420-8220del | ENSP00000320758.6:n.-420-8234_-420-8220del | |
| ENST00000549189.1:n.471-8234_471-8220del | ||
| ENST00000618760.4:c.-420-8234_-420-8220del | ENSP00000477999.1:n.-420-8234_-420-8220del | |
| NM_000620.4:c.-420-8234_-420-8220del | NP_000611.1:n.-420-8234_-420-8220del | |
| NM_001204218.1:c.-420-8234_-420-8220del | NP_001191147.1:n.-420-8234_-420-8220del | |
| XM_011538398.1:c.-420-8234_-420-8220del | XP_011536700.1:n.-420-8234_-420-8220del | |
| NM_000620.5:c.-420-8234_-420-8220del MANE Select | NP_000611.1:n.-420-8234_-420-8220del | |
| NM_001204218.2:c.-420-8234_-420-8220del | NP_001191147.1:n.-420-8234_-420-8220del |