Linked Data
dbSNP Id:
rs747113842
ExAC:
X:47432238 A / AT
gnomAD v2:
X-47432238-A-AT
gnomAD v3:
X-47572839-A-AT
gnomAD v4:
X-47572839-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47572843dup , CM000685.2:g.47572843dup | GRCh38 |
| NC_000023.10:g.47432242dup , CM000685.1:g.47432242dup | GRCh37 |
| NC_000023.9:g.47317186dup | NCBI36 |
| NG_008437.1:g.52018dup | |
| NG_016339.1:g.16727dup | |
| NG_016339.2:g.16727dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295987.13:c.*24dup MANE Select | ENSP00000295987.7:n.*24dup | |
| ENST00000340666.5:c.*94dup | ENSP00000343206.4:n.*94dup | |
| ENST00000640721.1:c.192dup | ENSP00000492857.1:n.192dup | |
| ENST00000295987.11:c.*24dup | ENSP00000295987.7:n.*24dup | |
| ENST00000340666.4:c.*94dup | ENSP00000343206.4:n.*94dup | |
| NM_006950.3:c.*24dup MANE Select | NP_008881.2:n.*24dup | |
| NM_133499.2:c.*94dup | NP_598006.1:n.*94dup |