Linked Data
dbSNP Id:
rs769279194
ExAC:
22:42524884 TGAGG / T
gnomAD v2:
22-42524884-TGAGG-T
gnomAD v4:
22-42128882-TGAGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42128887_42128890del , CM000684.2:g.42128887_42128890del | GRCh38 |
| NC_000022.10:g.42524889_42524892del , CM000684.1:g.42524889_42524892del | GRCh37 |
| NC_000022.9:g.40854833_40854836del | NCBI36 |
| NG_008376.3:g.6106_6109del | |
| NG_008376.4:g.6925_6928del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360124.10:c.411_414del | ENSP00000353241.6:p.Leu138ProfsTer19 | |
| ENST00000645361.2:c.564_567del MANE Select | ENSP00000496150.1:p.Leu189ProfsTer19 | |
| ENST00000359033.4:c.411_414del | ENSP00000351927.4:p.Leu138ProfsTer19 | |
| ENST00000360124.9:c.231_234del | ENSP00000353241.5:p.Leu78ProfsTer19 | |
| ENST00000360608.9:c.564_567del | ENSP00000353820.5:p.Leu189ProfsTer19 | |
| ENST00000389970.7:c.498_501del | ENSP00000374620.4:p.Leu167ProfsTer19 | |
| ENST00000488442.1:n.1288_1291del | ||
| NM_000106.5:c.564_567del | NP_000097.3:p.Leu189ProfsTer19 | |
| NM_001025161.2:c.411_414del | NP_001020332.2:p.Leu138ProfsTer19 | |
| XM_011529966.1:c.564_567del | XP_011528268.1:p.Leu189ProfsTer19 | |
| XM_011529967.1:c.564_567del | XP_011528269.1:p.Leu189ProfsTer19 | |
| XM_011529968.1:c.564_567del | XP_011528270.1:p.Leu189ProfsTer19 | |
| XM_011529969.1:c.420_423del | XP_011528271.1:p.Leu141ProfsTer19 | |
| XM_011529970.1:c.411_414del | XP_011528272.1:p.Leu138ProfsTer19 | |
| XM_011529971.1:c.420_423del | XP_011528273.1:p.Leu141ProfsTer19 | |
| XM_011529972.1:c.564_567del | XP_011528274.1:p.Leu189ProfsTer19 | |
| NM_000106.6:c.564_567del MANE Select | NP_000097.3:p.Leu189ProfsTer19 | |
| NM_001025161.3:c.411_414del | NP_001020332.2:p.Leu138ProfsTer19 |