Linked Data
dbSNP Id:
rs1564875011
gnomAD v2:
11-5247857-G-GC
gnomAD v3:
11-5226627-G-GC
gnomAD v4:
11-5226627-G-GC
MyVariant Identifiers:
chr11:g.5247857_5247858insC (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226627_5226628insC , CM000673.2:g.5226627_5226628insC | GRCh38 |
| NC_000011.9:g.5247857_5247858insC , CM000673.1:g.5247857_5247858insC | GRCh37 |
| NC_000011.8:g.5204433_5204434insC | NCBI36 |
| NG_000007.3:g.70988_70989insG | |
| NG_059281.1:g.5444_5445insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.264_265insG | ENSP00000494175.1:p.Leu89AlafsTer3 | |
| ENST00000335295.4:c.264_265insG MANE Select | ENSP00000333994.3:p.Leu89AlafsTer3 | |
| ENST00000380315.2:c.264_265insG | ENSP00000369671.2:p.Leu89AlafsTer3 | |
| ENST00000475226.1:n.196_197insG | ||
| ENST00000485743.1:n.315_316insG | ||
| ENST00000633227.1:c.*80_*81insG | ENSP00000488004.1:n.*80_*81insG | |
| NM_000518.4:c.264_265insG | NP_000509.1:p.Leu89AlafsTer3 | |
| NM_000518.5:c.264_265insG MANE Select | NP_000509.1:p.Leu89AlafsTer3 |