Linked Data
ClinVar Variation Id:
497065
ClinVar RCV Id:
RCV000593960
dbSNP Id:
rs750972473
ExAC:
5:37121717 ACCCTCT / A
gnomAD v2:
5-37121717-ACCCTCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37121616_37121621del , CM000667.2:g.37121616_37121621del | GRCh38 |
| NC_000005.9:g.37121718_37121723del , CM000667.1:g.37121718_37121723del | GRCh37 |
| NC_000005.8:g.37157475_37157480del | NCBI36 |
| NG_032772.1:g.132808_132813del | |
| NG_032772.2:g.132808_132813del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651892.2:c.9181_9185+1del | ||
| ENST00000676160.1:n.1687_1691+1del | ||
| ENST00000425232.6:c.9019_9023+1del | ||
| ENST00000508244.5:c.9019_9023+1del | ||
| ENST00000509849.5:c.6193_6197+1del | ||
| ENST00000512288.5:n.505_509+1del | ||
| ENST00000514429.5:c.6217_6221+1del | ||
| NM_023073.3:c.9019_9023+1del | ||
| XM_005248345.2:c.9181_9185+1del | ||
| XM_005248346.2:c.9178_9182+1del | ||
| XM_005248347.2:c.9178_9182+1del | ||
| XM_005248349.2:c.9070_9074+1del | ||
| XM_005248350.2:c.9052_9056+1del | ||
| XM_005248353.3:c.5824_5828+1del | ||
| XM_006714489.2:c.9181_9185+1del | ||
| XM_006714491.2:c.3754_3758+1del | ||
| XM_011514085.1:c.9181_9185+1del | ||
| XM_011514086.1:c.9181_9185+1del | ||
| XM_011514087.1:c.9127_9131+1del | ||
| XM_011514088.1:c.9073_9077+1del | ||
| XM_011514089.1:c.9181_9185+1del | ||
| XM_011514090.1:c.8863_8867+1del | ||
| XM_011514091.1:c.8509_8513+1del | ||
| XM_011514094.1:c.6406_6410+1del | ||
| XR_427661.2:n.9356_9360+1del | ||
| XR_925644.1:n.9356_9360+1del | ||
| XM_005248345.4:c.9181_9185+1del | ||
| XM_005248346.4:c.9178_9182+1del | ||
| XM_005248347.4:c.9178_9182+1del | ||
| XM_005248349.4:c.9070_9074+1del | ||
| XM_005248350.4:c.9052_9056+1del | ||
| XM_006714491.3:c.3754_3758+1del | ||
| XM_011514085.3:c.9181_9185+1del | ||
| XM_011514086.3:c.9181_9185+1del | ||
| XM_011514087.2:c.9127_9131+1del | ||
| XM_011514088.2:c.9073_9077+1del | ||
| XM_011514089.2:c.9181_9185+1del | ||
| XM_011514090.3:c.8863_8867+1del | ||
| XM_011514094.2:c.6406_6410+1del | ||
| XM_017009760.1:c.8992_8996+1del | ||
| XM_017009761.2:c.8992_8996+1del | ||
| XM_017009763.1:c.8188_8192+1del | ||
| XM_017009765.1:c.7993_7997+1del | ||
| XM_017009766.1:c.5824_5828+1del | ||
| XM_024446183.1:c.8992_8996+1del | ||
| XM_024446184.1:c.8863_8867+1del | ||
| XM_024446185.1:c.8509_8513+1del | ||
| XM_024446186.1:c.8188_8192+1del | ||
| XR_925644.2:n.9405_9409+1del | ||
| NM_001384732.1:c.9181_9185+1del | ||
| NM_023073.4:c.9019_9023+1del |