ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173232958_173232963del , CM000667.2:g.173232958_173232963del | GRCh38 |
| NC_000005.9:g.172659961_172659966del , CM000667.1:g.172659961_172659966del | GRCh37 |
| NC_000005.8:g.172592567_172592572del | NCBI36 |
| NG_013340.1:g.7358_7363del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329198.5:c.589_594del MANE Select | ENSP00000327758.4:p.Arg197_Gln198del | |
| ENST00000329198.4:c.589_594del | ENSP00000327758.4:p.Arg197_Gln198del | |
| ENST00000424406.2:c.*542_*547del | ENSP00000395378.2:n.*542_*547del | |
| ENST00000521848.1:c.*388_*393del | ENSP00000427906.1:n.*388_*393del | |
| NM_001166175.1:c.*542_*547del | NP_001159647.1:n.*542_*547del | |
| NM_001166176.1:c.*388_*393del | NP_001159648.1:n.*388_*393del | |
| NM_004387.3:c.589_594del | NP_004378.1:p.Arg197_Gln198del | |
| NM_004387.4:c.589_594del MANE Select | NP_004378.1:p.Arg197_Gln198del | |
| NM_001166175.2:c.*542_*547del | NP_001159647.1:n.*542_*547del | |
| NM_001166176.2:c.*388_*393del | NP_001159648.1:n.*388_*393del |