Linked Data
dbSNP Id:
rs2083525751
gnomAD v3:
X-9765351-GACCGAGCAGGTCCCAACCAGCCAGCT-G
gnomAD v4:
X-9765351-GACCGAGCAGGTCCCAACCAGCCAGCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.9765354_9765379del , CM000685.2:g.9765354_9765379del | GRCh38 |
| NC_000023.10:g.9733394_9733419del , CM000685.1:g.9733394_9733419del | GRCh37 |
| NC_000023.9:g.9693394_9693419del | NCBI36 |
| NG_009074.1:g.5501_5526del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467482.6:c.250+191_250+216del MANE Select | ENSP00000417161.1:n.250+191_250+216del | |
| ENST00000431126.1:c.-3+743_-3+768del | ENSP00000406138.1:n.-3+743_-3+768del | |
| ENST00000447366.5:c.-2-4551_-2-4526del | ENSP00000390546.2:n.-2-4551_-2-4526del | |
| ENST00000467482.5:c.250+191_250+216del | ENSP00000417161.1:n.250+191_250+216del | |
| NM_000273.2:c.250+191_250+216del | NP_000264.2:n.250+191_250+216del | |
| XM_005274541.2:c.250+191_250+216del | XP_005274598.1:n.250+191_250+216del | |
| XM_005274541.3:c.250+191_250+216del | XP_005274598.1:n.250+191_250+216del | |
| XM_024452387.1:c.-2-4551_-2-4526del | XP_024308155.1:n.-2-4551_-2-4526del | |
| XM_024452388.1:c.-2-4551_-2-4526del | XP_024308156.1:n.-2-4551_-2-4526del | |
| NM_000273.3:c.250+191_250+216del MANE Select | NP_000264.2:n.250+191_250+216del |