Linked Data
ClinVar Variation Id:
56224
dbSNP Id:
rs386833676
ExAC:
X:85133967 T / TA
gnomAD v2:
X-85133967-T-TA
gnomAD v4:
X-85878962-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.85878963dup , CM000685.2:g.85878963dup | GRCh38 |
| NC_000023.10:g.85133968dup , CM000685.1:g.85133968dup | GRCh37 |
| NC_000023.9:g.85020624dup | NCBI36 |
| NG_009874.2:g.173600dup , LRG_699:g.173600dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357749.7:c.1609+2dup MANE Select | ENSP00000350386.2:n.1609+2dup | |
| ENST00000357749.6:c.1609+2dup | ENSP00000350386.2:n.1609+2dup | |
| ENST00000467744.2:n.127-15869dup | ||
| NM_000390.2:c.1609+2dup , LRG_699t1:c.1609+2dup | NP_000381.1:n.1609+2dup | |
| XM_006724615.2:c.1546+2dup | XP_006724678.1:n.1546+2dup | |
| XM_011530839.1:c.1165+2dup | XP_011529141.1:n.1165+2dup | |
| NM_000390.3:c.1609+2dup | NP_000381.1:n.1609+2dup | |
| NM_001320959.1:c.1165+2dup | NP_001307888.1:n.1165+2dup | |
| NM_001362517.1:c.1165+2dup | NP_001349446.1:n.1165+2dup | |
| NM_001362518.1:c.1165+2dup | NP_001349447.1:n.1165+2dup | |
| NM_001362519.1:c.1165+2dup | NP_001349448.1:n.1165+2dup | |
| XM_017029242.2:c.1609+2dup | XP_016884731.1:n.1609+2dup | |
| XM_017029246.1:c.1165+2dup | XP_016884735.1:n.1165+2dup | |
| XM_024452331.1:c.1165+2dup | XP_024308099.1:n.1165+2dup | |
| NM_000390.4:c.1609+2dup MANE Select | NP_000381.1:n.1609+2dup | |
| NM_001362518.2:c.1165+2dup | NP_001349447.1:n.1165+2dup |