Linked Data
dbSNP Id:
rs1206618489
gnomAD v3:
9-133352948-GTGGT-G
gnomAD v4:
9-133352948-GTGGT-G
MyVariant Identifiers:
chr9:g.133352949_133352952del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352953_133352956del , CM000671.2:g.133352953_133352956del | GRCh38 |
| NC_000009.10:g.135209629_135209632del | NCBI36 |
| NG_008477.1:g.8555_8558del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.516-186_516-183del MANE Select | ENSP00000361042.3:n.516-186_516-183del | |
| ENST00000371974.7:c.516-186_516-183del | ENSP00000361042.3:n.516-186_516-183del | |
| ENST00000437995.1:n.462-222_462-219del | ||
| ENST00000495952.5:n.506-186_506-183del | ||
| ENST00000615505.4:c.189-186_189-183del | ENSP00000482067.1:n.189-186_189-183del | |
| NM_001280787.1:c.189-186_189-183del | NP_001267716.1:n.189-186_189-183del | |
| NM_003172.3:c.516-186_516-183del | NP_003163.1:n.516-186_516-183del | |
| XM_011518942.1:c.189-186_189-183del | XP_011517244.1:n.189-186_189-183del | |
| NM_003172.4:c.516-186_516-183del MANE Select | NP_003163.1:n.516-186_516-183del |