Linked Data
dbSNP Id:
rs746935792
ExAC:
11:124742378 GTAC / G
gnomAD v2:
11-124742378-GTAC-G
gnomAD v4:
11-124872482-GTAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124872486_124872488del , CM000673.2:g.124872486_124872488del | GRCh38 |
| NC_000011.9:g.124742382_124742384del , CM000673.1:g.124742382_124742384del | GRCh37 |
| NC_000011.8:g.124247592_124247594del | NCBI36 |
| NG_016214.1:g.12078_12080del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397801.6:c.1264_1266del MANE Select | ENSP00000380903.1:p.Tyr422del | |
| ENST00000397801.5:c.1264_1266del | ENSP00000380903.1:p.Tyr422del | |
| ENST00000538940.5:c.1198_1200del | ENSP00000441797.1:p.Tyr400del | |
| NM_022370.3:c.1264_1266del | NP_071765.2:p.Tyr422del | |
| XM_011542953.1:c.2236_2238del | XP_011541255.1:p.Tyr746del | |
| XM_017018122.1:c.1198_1200del | XP_016873611.1:p.Tyr400del | |
| NM_022370.4:c.1264_1266del MANE Select | NP_071765.2:p.Tyr422del |