Linked Data
dbSNP Id:
rs1473709953
gnomAD v3:
9-133352384-TAGG-T
gnomAD v4:
9-133352384-TAGG-T
MyVariant Identifiers:
chr9:g.133352385_133352387del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352389_133352391del , CM000671.2:g.133352389_133352391del | GRCh38 |
| NC_000009.10:g.135209065_135209067del | NCBI36 |
| NG_008477.1:g.9120_9122del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.751+59_751+61del MANE Select | ENSP00000361042.3:n.751+59_751+61del | |
| ENST00000371974.7:c.751+59_751+61del | ENSP00000361042.3:n.751+59_751+61del | |
| ENST00000437995.1:n.661+59_661+61del | ||
| ENST00000495952.5:n.741+59_741+61del | ||
| ENST00000615505.4:c.424+59_424+61del | ENSP00000482067.1:n.424+59_424+61del | |
| NM_001280787.1:c.424+59_424+61del | NP_001267716.1:n.424+59_424+61del | |
| NM_003172.3:c.751+59_751+61del | NP_003163.1:n.751+59_751+61del | |
| XM_011518942.1:c.424+59_424+61del | XP_011517244.1:n.424+59_424+61del | |
| NM_003172.4:c.751+59_751+61del MANE Select | NP_003163.1:n.751+59_751+61del |