Linked Data
ClinVar Variation Id:
180890
ClinVar RCV Id:
RCV000157988
dbSNP Id:
rs1556124241
gnomAD v2:
X-119603038-A-AGGCGGCGACGGC
gnomAD v4:
X-120469183-A-AGGCGGCGACGGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.120469188_120469199dup , CM000685.2:g.120469188_120469199dup | GRCh38 |
| NC_000023.10:g.119603043_119603054dup , CM000685.1:g.119603043_119603054dup | GRCh37 |
| NC_000023.9:g.119487071_119487082dup | NCBI36 |
| NG_007995.1:g.5155_5166dup , LRG_749:g.5155_5166dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706600.1:c.-26_-15dup | ENSP00000516464.1:n.-26_-15dup | |
| ENST00000200639.9:c.-26_-15dup MANE Select | ENSP00000200639.4:n.-26_-15dup | |
| ENST00000200639.8:c.-26_-15dup | ENSP00000200639.4:n.-26_-15dup | |
| ENST00000371335.4:c.-26_-15dup | ENSP00000360386.4:n.-26_-15dup | |
| ENST00000434600.6:c.-26_-15dup | ENSP00000408411.2:n.-26_-15dup | |
| NM_001122606.1:c.-26_-15dup , LRG_749t3:c.-26_-15dup | NP_001116078.1:n.-26_-15dup | |
| NM_002294.2:c.-26_-15dup , LRG_749t1:c.-26_-15dup | NP_002285.1:n.-26_-15dup | |
| NM_013995.2:c.-26_-15dup , LRG_749t2:c.-26_-15dup | NP_054701.1:n.-26_-15dup | |
| NM_002294.3:c.-26_-15dup MANE Select | NP_002285.1:n.-26_-15dup |