Linked Data
dbSNP Id:
rs2091750932
gnomAD v3:
X-153736564-GTGCTGACC-G
gnomAD v4:
X-153736564-GTGCTGACC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736570_153736577del , CM000685.2:g.153736570_153736577del | GRCh38 |
| NC_000023.10:g.153002024_153002031del , CM000685.1:g.153002024_153002031del | GRCh37 |
| NC_000023.9:g.152655218_152655225del | NCBI36 |
| NG_009022.2:g.16703_16710del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1393+57_1393+64del MANE Select | ENSP00000218104.3:n.1393+57_1393+64del | |
| ENST00000218104.5:c.1393+57_1393+64del | ENSP00000218104.3:n.1393+57_1393+64del | |
| ENST00000443684.2:n.396+57_396+64del | ||
| NM_000033.3:c.1393+57_1393+64del | NP_000024.2:n.1393+57_1393+64del | |
| XR_938507.1:n.1809+57_1809+64del | ||
| XR_938507.2:n.1809+57_1809+64del | ||
| NM_000033.4:c.1393+57_1393+64del MANE Select | NP_000024.2:n.1393+57_1393+64del |