Linked Data
ClinVar Variation Id:
312156
dbSNP Id:
rs142947196
ExAC:
13:40325536 AT / A
gnomAD v2:
13-40325536-AT-A
gnomAD v3:
13-39751399-AT-A
gnomAD v4:
13-39751399-AT-A
MyVariant Identifiers:
chr13:g.40325545del (hg19)
chr13:g.40325537del (hg19)
chr13:g.39751408del (hg38)
chr13:g.39751400del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.39751408del , CM000675.2:g.39751408del | GRCh38 |
| NC_000013.10:g.40325545del , CM000675.1:g.40325545del | GRCh37 |
| NC_000013.9:g.39223545del | NCBI36 |
| NG_028352.1:g.100782del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455146.8:c.*315del MANE Select | ENSP00000397441.2:n.*315del | |
| ENST00000356576.8:c.*2126del | ENSP00000348983.4:n.*2126del | |
| ENST00000416691.5:c.1826+23860del | ENSP00000403733.1:n.1826+23860del | |
| ENST00000455146.7:c.*315del | ENSP00000397441.2:n.*315del | |
| NM_001145079.1:c.1826+23860del | NP_001138551.1:n.1826+23860del | |
| NM_020751.2:c.*315del | NP_065802.1:n.*315del | |
| NR_026745.1:n.2454del | ||
| XM_011535168.1:c.*315del | XP_011533470.1:n.*315del | |
| XM_011535169.1:c.*315del | XP_011533471.1:n.*315del | |
| XM_011535170.1:c.*315del | XP_011533472.1:n.*315del | |
| NM_020751.3:c.*315del MANE Select | NP_065802.1:n.*315del | |
| NM_001145079.2:c.1826+23860del | NP_001138551.1:n.1826+23860del |