Linked Data
dbSNP Id:
rs1373141625
gnomAD v2:
10-112349641-AT-A
gnomAD v3:
10-110589883-AT-A
gnomAD v4:
10-110589883-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110589886del , CM000672.2:g.110589886del | GRCh38 |
| NC_000010.10:g.112349644del , CM000672.1:g.112349644del | GRCh37 |
| NC_000010.9:g.112339634del | NCBI36 |
| NG_012217.1:g.27196del , LRG_774:g.27196del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684797.1:n.1310-6del | ||
| ENST00000684988.1:n.2055-6del | ||
| ENST00000687823.1:n.1324-6del | ||
| ENST00000689932.1:n.3473-6del | ||
| ENST00000691297.1:n.1543-6del | ||
| ENST00000691527.1:n.2213-6del | ||
| ENST00000692792.1:n.1529-6del | ||
| ENST00000361804.5:c.1410-6del MANE Select | ENSP00000354720.5:n.1410-6del | |
| ENST00000361804.4:c.1410-6del | ENSP00000354720.4:n.1410-6del | |
| NM_005445.3:c.1410-6del , LRG_774t1:c.1410-6del | NP_005436.1:n.1410-6del | |
| NM_005445.4:c.1410-6del MANE Select | NP_005436.1:n.1410-6del |