Linked Data
ClinVar Variation Id:
56716
ClinVar RCV Id:
RCV000050129
dbSNP Id:
rs386834135
gnomAD v4:
8-1780338-TGTG-T
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.1780343_1780345del , CM000670.2:g.1780343_1780345del | GRCh38 |
| NC_000008.10:g.1728509_1728511del , CM000670.1:g.1728509_1728511del | GRCh37 |
| NC_000008.9:g.1715916_1715918del | NCBI36 |
| NG_008656.2:g.29566_29568del , LRG_691:g.29566_29568del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331222.6:c.637_639del MANE Select | ENSP00000328182.4:p.Trp213del | |
| ENST00000519254.2:c.637_639del | ENSP00000490016.1:p.Trp213del | |
| ENST00000520991.3:c.*48_*50del | ENSP00000487905.2:n.*48_*50del | |
| ENST00000635751.1:c.637_639del | ENSP00000489694.1:p.Trp213del | |
| ENST00000635773.1:c.496+8746_496+8748del | ||
| ENST00000635855.1:c.543+8746_543+8748del | ENSP00000489726.1:n.543+8746_543+8748del | |
| ENST00000635970.1:c.637_639del | ENSP00000490439.1:p.Trp213del | |
| ENST00000636175.1:c.343+8746_343+8748del | ||
| ENST00000636934.1:c.543+8746_543+8748del | ENSP00000490218.1:n.543+8746_543+8748del | |
| ENST00000637083.1:c.637_639del | ENSP00000490235.1:p.Trp213del | |
| ENST00000637156.1:c.637_639del | ENSP00000490458.1:p.Trp213del | |
| ENST00000331222.4:c.637_639del | ENSP00000328182.4:p.Trp213del | |
| ENST00000519254.1:n.156_158del | ||
| ENST00000523237.1:n.412_414del | ||
| NM_018941.3:c.637_639del , LRG_691t1:c.637_639del | NP_061764.2:p.Trp213del | |
| XM_005266021.3:c.637_639del | XP_005266078.1:p.Trp213del | |
| XM_005266022.1:c.637_639del | XP_005266079.1:p.Trp213del | |
| XM_005266023.1:c.637_639del | XP_005266080.1:p.Trp213del | |
| XM_011534745.1:c.637_639del | XP_011533047.1:p.Trp213del | |
| XM_011534746.1:c.637_639del | XP_011533048.1:p.Trp213del | |
| XM_005266021.4:c.637_639del | XP_005266078.1:p.Trp213del | |
| XM_011534746.2:c.637_639del | XP_011533048.1:p.Trp213del | |
| NM_018941.4:c.637_639del MANE Select | NP_061764.2:p.Trp213del |