Linked Data
ClinVar Variation Id:
11954
dbSNP Id:
rs752137615
ExAC:
1:24144010 CAG / C
gnomAD v2:
1-24144010-CAG-C
gnomAD v3:
1-23817520-CAG-C
gnomAD v4:
1-23817520-CAG-C
MyVariant Identifiers:
chr1:g.24144011_24144012del (hg19)
chr1:g.24144011_24144012delAG (hg19)
chr1:g.23817521_23817522del (hg38)
PubMed:
PMID:8440722
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23817525_23817526del , CM000663.2:g.23817525_23817526del | GRCh38 |
| NC_000001.10:g.24144015_24144016del , CM000663.1:g.24144015_24144016del | GRCh37 |
| NC_000001.9:g.24016602_24016603del | NCBI36 |
| NG_013061.1:g.12938_12939del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374490.8:c.206_207del MANE Select | ENSP00000363614.3:p.Ser69CysfsTer11 | |
| ENST00000235958.4:c.131+2988_131+2989del | ||
| ENST00000374487.6:c.*247_*248del | ENSP00000363611.2:n.*247_*248del | |
| ENST00000374490.7:c.206_207del | ENSP00000363614.3:p.Ser69CysfsTer11 | |
| ENST00000436439.6:c.206_207del | ENSP00000389281.2:p.Ser69CysfsTer11 | |
| ENST00000498698.1:n.12_13del | ||
| ENST00000509389.5:n.218_219del | ||
| ENST00000513148.1:n.207_208del | ||
| NM_000191.2:c.206_207del | NP_000182.2:p.Ser69CysfsTer11 | |
| NM_001166059.1:c.206_207del | NP_001159531.1:p.Ser69CysfsTer11 | |
| NM_000191.3:c.206_207del MANE Select | NP_000182.2:p.Ser69CysfsTer11 | |
| NM_001166059.2:c.206_207del | NP_001159531.1:p.Ser69CysfsTer11 |