Linked Data
ClinVar Variation Id:
429200
dbSNP Id:
rs370068890
ExAC:
10:70181968 AT / A
gnomAD v2:
10-70181968-AT-A
gnomAD v3:
10-68422211-AT-A
gnomAD v4:
10-68422211-AT-A
MyVariant Identifiers:
chr10:g.70181970del (hg19)
chr10:g.70181969del (hg19)
chr10:g.68422212del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68422222del , CM000672.2:g.68422222del | GRCh38 |
| NC_000010.10:g.70181979del , CM000672.1:g.70181979del | GRCh37 |
| NC_000010.9:g.69851985del | NCBI36 |
| NG_034247.1:g.54762del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358410.8:c.2697+13del MANE Select | ENSP00000351185.3:n.2697+13del | |
| ENST00000358410.7:c.2697+13del | ENSP00000351185.3:n.2697+13del | |
| ENST00000399179.6:c.*518+13del | ENSP00000382132.3:n.*518+13del | |
| ENST00000399180.3:c.*518+13del | ENSP00000382133.3:n.*518+13del | |
| ENST00000440722.2:c.661+13del | ||
| ENST00000551118.6:c.1984-2320del | ENSP00000450393.3:n.1984-2320del | |
| NM_001080449.2:c.2697+13del | NP_001073918.2:n.2697+13del | |
| NR_102264.1:n.2671+13del | ||
| XM_006717680.2:c.2787+13del | XP_006717743.1:n.2787+13del | |
| XM_011539416.1:c.2787+13del | XP_011537718.1:n.2787+13del | |
| XM_011539417.1:c.1617+13del | XP_011537719.1:n.1617+13del | |
| XM_006717680.3:c.2787+13del | XP_006717743.1:n.2787+13del | |
| XM_017015799.1:c.2025+13del | XP_016871288.1:n.2025+13del | |
| NM_001080449.3:c.2697+13del MANE Select | NP_001073918.2:n.2697+13del | |
| NR_102264.2:n.2671+13del |