Linked Data
ClinVar Variation Id:
53119
dbSNP Id:
rs397508129
gnomAD v4:
11-2572922-ACGCGGTGAACGAGTCAGGC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572927_2572945del , CM000673.2:g.2572927_2572945del | GRCh38 |
| NC_000011.9:g.2594157_2594175del , CM000673.1:g.2594157_2594175del | GRCh37 |
| NC_000011.8:g.2550733_2550751del | NCBI36 |
| NG_008935.1:g.132937_132955del , LRG_287:g.132937_132955del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.601_619del | ENSP00000434560.2:p.Val201TrpfsTer? | |
| ENST00000646564.2:c.478-10508_478-10490del | ENSP00000495806.2:n.478-10508_478-10490de... | |
| ENST00000155840.12:c.862_880del MANE Select | ENSP00000155840.2:p.Val288TrpfsTer? | |
| ENST00000335475.6:c.481_499del | ENSP00000334497.5:p.Val161TrpfsTer? | |
| ENST00000646564.1:c.124-10508_124-10490del | ENSP00000495806.1:n.124-10508_124-10490de... | |
| ENST00000155840.9:c.862_880del | ENSP00000155840.2:p.Val288TrpfsTer? | |
| ENST00000335475.5:c.481_499del | ENSP00000334497.5:p.Val161TrpfsTer? | |
| NM_000218.2:c.862_880del , LRG_287t1:c.862_880del | NP_000209.2:p.Val288TrpfsTer? | |
| NM_181798.1:c.481_499del , LRG_287t2:c.481_499del | NP_861463.1:p.Val161TrpfsTer? | |
| NM_000218.3:c.862_880del MANE Select | NP_000209.2:p.Val288TrpfsTer? |