Linked Data
dbSNP Id:
rs1174092048
gnomAD v2:
X-53409070-ATC-A
gnomAD v3:
X-53382149-ATC-A
gnomAD v4:
X-53382149-ATC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53382153_53382154del , CM000685.2:g.53382153_53382154del | GRCh38 |
| NC_000023.10:g.53409074_53409075del , CM000685.1:g.53409074_53409075del | GRCh37 |
| NC_000023.9:g.53425799_53425800del | NCBI36 |
| NG_006988.2:g.45520_45521del , LRG_773:g.45520_45521del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.3437+81_3437+82del MANE Select | ENSP00000323421.3:n.3437+81_3437+82del | |
| ENST00000674590.1:c.2669+81_2669+82del | ENSP00000502626.1:n.2669+81_2669+82del | |
| ENST00000675504.1:c.3371+81_3371+82del | ENSP00000502524.1:n.3371+81_3371+82del | |
| ENST00000322213.8:c.3437+81_3437+82del | ENSP00000323421.3:n.3437+81_3437+82del | |
| ENST00000375340.10:c.3371+81_3371+82del | ENSP00000364489.7:n.3371+81_3371+82del | |
| ENST00000469129.1:n.374_375del | ||
| ENST00000470241.2:c.727+81_727+82del | ||
| NM_001281463.1:c.3371+81_3371+82del , LRG_773t1:c.3371+81_3371+82del | NP_001268392.1:n.3371+81_3371+82del | |
| NM_006306.3:c.3437+81_3437+82del , LRG_773t2:c.3437+81_3437+82del | NP_006297.2:n.3437+81_3437+82del | |
| NM_006306.4:c.3437+81_3437+82del MANE Select | NP_006297.2:n.3437+81_3437+82del |