ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572893_2572895del , CM000673.2:g.2572893_2572895del | GRCh38 |
| NC_000011.9:g.2594123_2594125del , CM000673.1:g.2594123_2594125del | GRCh37 |
| NC_000011.8:g.2550699_2550701del | NCBI36 |
| NG_008935.1:g.132903_132905del , LRG_287:g.132903_132905del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.567_569del | ENSP00000434560.2:p.Ser190del | |
| ENST00000646564.2:c.478-10542_478-10540del | ENSP00000495806.2:n.478-10542_478-10540del | |
| ENST00000155840.12:c.828_830del MANE Select | ENSP00000155840.2:p.Ser277del | |
| ENST00000335475.6:c.447_449del | ENSP00000334497.5:p.Ser150del | |
| ENST00000646564.1:c.124-10542_124-10540del | ENSP00000495806.1:n.124-10542_124-10540del | |
| ENST00000155840.9:c.828_830del | ENSP00000155840.2:p.Ser277del | |
| ENST00000335475.5:c.447_449del | ENSP00000334497.5:p.Ser150del | |
| ENST00000496887.6:c.567_569del | ENSP00000434560.1:p.Ser190del | |
| NM_000218.2:c.828_830del , LRG_287t1:c.828_830del | NP_000209.2:p.Ser277del | |
| NM_181798.1:c.447_449del , LRG_287t2:c.447_449del | NP_861463.1:p.Ser150del | |
| NM_000218.3:c.828_830del MANE Select | NP_000209.2:p.Ser277del |