Linked Data
dbSNP Id:
rs1446298297
gnomAD v2:
16-51172888-GACA-G
gnomAD v3:
16-51138977-GACA-G
gnomAD v4:
16-51138977-GACA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.51138980_51138982del , CM000678.2:g.51138980_51138982del | GRCh38 |
| NC_000016.9:g.51172891_51172893del , CM000678.1:g.51172891_51172893del | GRCh37 |
| NC_000016.8:g.49730392_49730394del | NCBI36 |
| NG_007990.1:g.17293_17295del , LRG_674:g.17293_17295del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000440970.6:c.3242_3244del | ENSP00000407914.2:p.Leu1081del | |
| ENST00000570206.2:c.2951_2953del | ENSP00000456777.2:p.Leu984del | |
| ENST00000685868.1:c.3242_3244del | ENSP00000509873.1:p.Leu1081del | |
| ENST00000690502.1:c.3242_3244del | ENSP00000510560.1:p.Leu1081del | |
| ENST00000251020.9:c.3242_3244del MANE Select | ENSP00000251020.4:p.Leu1081del | |
| ENST00000251020.8:c.3242_3244del | ENSP00000251020.4:p.Leu1081del | |
| ENST00000440970.5:c.2951_2953del | ENSP00000407914.1:p.Leu984del | |
| ENST00000566102.1:c.77-1428_77-1426del | ENSP00000455582.1:n.77-1428_77-1426del | |
| ENST00000570206.1:c.2951_2953del | ENSP00000456777.1:p.Leu984del | |
| NM_001127892.1:c.2951_2953del | NP_001121364.1:p.Leu984del | |
| NM_002968.2:c.3242_3244del , LRG_674t1:c.3242_3244del | NP_002959.2:p.Leu1081del | |
| XM_006721241.2:c.3242_3244del | XP_006721304.1:p.Leu1081del | |
| XM_011523254.1:c.3242_3244del | XP_011521556.1:p.Leu1081del | |
| XM_011523255.1:c.3242_3244del | XP_011521557.1:p.Leu1081del | |
| NM_002968.3:c.3242_3244del MANE Select | NP_002959.2:p.Leu1081del | |
| NM_001127892.2:c.2951_2953del | NP_001121364.1:p.Leu984del |