Linked Data
dbSNP Id:
rs1601891482
gnomAD v3:
X-9765545-C-CCGCGGGCCG
gnomAD v4:
X-9765545-C-CCGCGGGCCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.9765550_9765558dup , CM000685.2:g.9765550_9765558dup | GRCh38 |
| NC_000023.10:g.9733590_9733598dup , CM000685.1:g.9733590_9733598dup | GRCh37 |
| NC_000023.9:g.9693590_9693598dup | NCBI36 |
| NG_009074.1:g.5324_5332dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000467482.6:c.250+14_250+22dup MANE Select | ENSP00000417161.1:n.250+14_250+22dup | |
| ENST00000431126.1:c.-3+566_-3+574dup | ENSP00000406138.1:n.-3+566_-3+574dup | |
| ENST00000447366.5:c.-2-4728_-2-4720dup | ENSP00000390546.2:n.-2-4728_-2-4720dup | |
| ENST00000467482.5:c.250+14_250+22dup | ENSP00000417161.1:n.250+14_250+22dup | |
| NM_000273.2:c.250+14_250+22dup | NP_000264.2:n.250+14_250+22dup | |
| XM_005274541.2:c.250+14_250+22dup | XP_005274598.1:n.250+14_250+22dup | |
| XM_005274541.3:c.250+14_250+22dup | XP_005274598.1:n.250+14_250+22dup | |
| XM_024452387.1:c.-2-4728_-2-4720dup | XP_024308155.1:n.-2-4728_-2-4720dup | |
| XM_024452388.1:c.-2-4728_-2-4720dup | XP_024308156.1:n.-2-4728_-2-4720dup | |
| NM_000273.3:c.250+14_250+22dup MANE Select | NP_000264.2:n.250+14_250+22dup |