Linked Data
ClinVar Variation Id:
1262335
ClinVar RCV Id:
RCV001667454
dbSNP Id:
rs200013146
gnomAD v2:
X-43809523-AG-A
gnomAD v3:
X-43950277-AG-A
gnomAD v4:
X-43950277-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43950280del , CM000685.2:g.43950280del | GRCh38 |
| NC_000023.10:g.43809526del , CM000685.1:g.43809526del | GRCh37 |
| NC_000023.9:g.43694470del | NCBI36 |
| NG_009832.1:g.28398del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642620.1:c.175-252del (NDP) MANE Select | ENSP00000495972.1:n.175-252del | |
| ENST00000647044.1:c.175-252del (NDP) | ENSP00000495811.1:n.175-252del | |
| ENST00000378062.5:c.175-252del (NDP) | ENSP00000367301.5:n.175-252del | |
| ENST00000470584.1:n.219-252del (NDP) | ||
| NM_000266.3:c.175-252del (NDP) | NP_000257.1:n.175-252del | |
| NR_046631.1:n.349+200del (NDP-AS1) | ||
| NM_000266.4:c.175-252del (NDP) MANE Select | NP_000257.1:n.175-252del |