Linked Data
ClinVar Variation Id:
516414
dbSNP Id:
rs34922453
ExAC:
10:70206033 TA / T
gnomAD v2:
10-70206033-TA-T
gnomAD v3:
10-68446276-TA-T
gnomAD v4:
10-68446276-TA-T
COSMIC:
COSN1121669
MyVariant Identifiers:
chr10:g.70206035del (hg19)
chr10:g.70206034del (hg19)
chr10:g.68446277del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68446286del , CM000672.2:g.68446286del | GRCh38 |
| NC_000010.10:g.70206043del , CM000672.1:g.70206043del | GRCh37 |
| NC_000010.9:g.69876049del | NCBI36 |
| NG_034247.1:g.30697del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358410.8:c.1057+19del MANE Select | ENSP00000351185.3:n.1057+19del | |
| ENST00000358410.7:c.1057+19del | ENSP00000351185.3:n.1057+19del | |
| ENST00000399179.6:c.1057+19del | ENSP00000382132.3:n.1057+19del | |
| ENST00000399180.3:c.1057+19del | ENSP00000382133.3:n.1057+19del | |
| ENST00000551118.6:c.1057+19del | ENSP00000450393.3:n.1057+19del | |
| NM_001080449.2:c.1057+19del | NP_001073918.2:n.1057+19del | |
| NR_102264.1:n.1146+19del | ||
| XM_006717680.2:c.1147+19del | XP_006717743.1:n.1147+19del | |
| XM_011539416.1:c.1147+19del | XP_011537718.1:n.1147+19del | |
| XM_011539417.1:c.-23-1194del | XP_011537719.1:n.-23-1194del | |
| XM_011539418.1:c.1147+19del | XP_011537720.1:n.1147+19del | |
| XM_011539419.1:c.1147+19del | XP_011537721.1:n.1147+19del | |
| XM_006717680.3:c.1147+19del | XP_006717743.1:n.1147+19del | |
| XM_017015799.1:c.385+19del | XP_016871288.1:n.385+19del | |
| NM_001080449.3:c.1057+19del MANE Select | NP_001073918.2:n.1057+19del | |
| NR_102264.2:n.1146+19del |