Linked Data
dbSNP Id:
rs2147283060
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55153875del , CM000681.2:g.55153875del | GRCh38 |
| NC_000019.9:g.55665243del , CM000681.1:g.55665243del | GRCh37 |
| NC_000019.8:g.60357055del | NCBI36 |
| NG_007866.2:g.8861del , LRG_432:g.8861del | |
| NG_011829.2:g.367del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.549+158del MANE Select | ENSP00000341838.5:n.549+158del | |
| ENST00000665070.1:c.582+158del | ENSP00000499482.1:n.582+158del | |
| ENST00000344887.9:c.549+158del | ENSP00000341838.5:n.549+158del | |
| ENST00000585806.5:n.548+158del | ||
| ENST00000588882.1:c.474+158del | ENSP00000466729.1:n.474+158del | |
| ENST00000589864.1:n.377+158del | ||
| NM_000363.4:c.549+158del , LRG_432t1:c.549+158del | NP_000354.4:n.549+158del | |
| NM_000363.5:c.549+158del MANE Select | NP_000354.4:n.549+158del |