Linked Data
ClinVar Variation Id:
2113
ClinVar RCV Id:
RCV000002194
dbSNP Id:
rs724159828
PubMed:
PMID:9467010
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34916743_34916746del , CM000673.2:g.34916743_34916746del | GRCh38 |
| NC_000011.9:g.34938290_34938293del , CM000673.1:g.34938290_34938293del | GRCh37 |
| NC_000011.8:g.34894866_34894869del | NCBI36 |
| NG_013368.1:g.5614_5617del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000448838.8:c.-21+257_-21+260del | ENSP00000389404.3:n.-21+257_-21+260del | |
| ENST00000227868.9:c.88_91del MANE Select | ENSP00000227868.4:p.Lys30GlyfsTer7 | |
| ENST00000227868.8:c.88_91del | ENSP00000227868.4:p.Lys30GlyfsTer7 | |
| ENST00000430469.6:c.88_91del | ENSP00000415695.2:p.Lys30GlyfsTer7 | |
| ENST00000448838.7:c.115+257_115+260del | ENSP00000389404.2:n.115+257_115+260del | |
| ENST00000533262.1:c.88_91del | ENSP00000432277.1:p.Lys30GlyfsTer7 | |
| ENST00000533550.5:c.-21+805_-21+808del | ENSP00000431281.1:n.-21+805_-21+808del | |
| NM_001135024.1:c.115+257_115+260del | NP_001128496.1:n.115+257_115+260del | |
| NM_001166158.1:c.88_91del | NP_001159630.1:p.Lys30GlyfsTer7 | |
| NM_003477.2:c.88_91del | NP_003468.2:p.Lys30GlyfsTer7 | |
| XM_011520390.1:c.-21+805_-21+808del | XP_011518692.1:n.-21+805_-21+808del | |
| NM_003477.3:c.88_91del MANE Select | NP_003468.2:p.Lys30GlyfsTer7 | |
| NM_001135024.2:c.-21+257_-21+260del | NP_001128496.2:n.-21+257_-21+260del | |
| NM_001166158.2:c.88_91del | NP_001159630.1:p.Lys30GlyfsTer7 |