Linked Data
dbSNP Id:
rs1266447628
gnomAD v2:
17-42449641-TC-T
gnomAD v3:
17-44372273-TC-T
gnomAD v4:
17-44372273-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372275del , CM000679.2:g.44372275del | GRCh38 |
| NC_000017.10:g.42449643del , CM000679.1:g.42449643del | GRCh37 |
| NC_000017.9:g.39805169del | NCBI36 |
| NG_008331.1:g.22232del , LRG_479:g.22232del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.*90del MANE Select | ENSP00000262407.5:n.*90del | |
| ENST00000648408.1:c.2524del | ||
| ENST00000262407.5:c.*90del | ENSP00000262407.5:n.*90del | |
| ENST00000587295.5:c.403del | ||
| ENST00000588098.1:c.187del | ||
| NM_000419.3:c.*90del , LRG_479t1:c.*90del | NP_000410.2:n.*90del | |
| XM_011524749.1:c.*90del | XP_011523051.1:n.*90del | |
| XM_011524750.1:c.*90del | XP_011523052.1:n.*90del | |
| NM_000419.4:c.*90del | NP_000410.2:n.*90del | |
| NM_000419.5:c.*90del MANE Select | NP_000410.2:n.*90del |