Linked Data
dbSNP Id:
rs748216046
ExAC:
5:151208520 CCTT / C
gnomAD v2:
5-151208520-CCTT-C
gnomAD v4:
5-151828959-CCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151828960_151828962del , CM000667.2:g.151828960_151828962del | GRCh38 |
| NC_000005.9:g.151208521_151208523del , CM000667.1:g.151208521_151208523del | GRCh37 |
| NC_000005.8:g.151188714_151188716del | NCBI36 |
| NG_011764.1:g.100875_100877del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.1018_1020del MANE Select | ENSP00000274576.5:p.Lys340del | |
| ENST00000274576.8:c.1018_1020del | ENSP00000274576.4:p.Lys340del | |
| ENST00000455880.2:c.1018_1020del | ENSP00000411593.2:p.Lys340del | |
| ENST00000462581.6:c.*776_*778del | ENSP00000430595.1:n.*776_*778del | |
| NM_000171.3:c.1018_1020del | NP_000162.2:p.Lys340del | |
| NM_001146040.1:c.1018_1020del | NP_001139512.1:p.Lys340del | |
| NM_001292000.1:c.769_771del | NP_001278929.1:p.Lys257del | |
| NM_000171.4:c.1018_1020del MANE Select | NP_000162.2:p.Lys340del | |
| NM_001146040.2:c.1018_1020del | NP_001139512.1:p.Lys340del | |
| NM_001292000.2:c.769_771del | NP_001278929.1:p.Lys257del |