Linked Data
dbSNP Id:
rs1207280484
gnomAD v2:
20-3838484-AC-A
gnomAD v3:
20-3857837-AC-A
gnomAD v4:
20-3857837-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3857842del , CM000682.2:g.3857842del | GRCh38 |
| NC_000020.10:g.3838489del , CM000682.1:g.3838489del | GRCh37 |
| NC_000020.9:g.3786489del | NCBI36 |
| NG_030028.1:g.16044del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000428216.4:c.292+33del MANE Select | ENSP00000401980.2:n.292+33del | |
| ENST00000416600.6:c.-132+3101del | ENSP00000413749.2:n.-132+3101del | |
| ENST00000428216.3:c.292+33del | ENSP00000401980.2:n.292+33del | |
| NM_001206491.1:c.-132+3101del | NP_001193420.1:n.-132+3101del | |
| NM_020746.4:c.292+33del | NP_065797.2:n.292+33del | |
| NR_037921.1:n.464+33del | ||
| NM_020746.5:c.292+33del MANE Select | NP_065797.2:n.292+33del | |
| NR_037921.2:n.429+33del | ||
| NM_001206491.2:c.-132+3101del | NP_001193420.1:n.-132+3101del | |
| NM_001385663.1:c.-256+33del | NP_001372592.1:n.-256+33del |