Linked Data
ClinVar Variation Id:
100225
dbSNP Id:
rs61748481
ExAC:
12:6145583 TC / T
gnomAD v2:
12-6145583-TC-T
gnomAD v3:
12-6036417-TC-T
gnomAD v4:
12-6036417-TC-T
MyVariant Identifiers:
chr12:g.6145585del (hg19)
chr12:g.6145584del (hg19)
chr12:g.6036419del (hg38)
chr12:g.6036418del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6036419del , CM000674.2:g.6036419del | GRCh38 |
| NC_000012.11:g.6145585del , CM000674.1:g.6145585del | GRCh37 |
| NC_000012.10:g.6015846del | NCBI36 |
| NG_009072.1:g.93253del | |
| NG_009072.2:g.93253del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.2516del MANE Select | ENSP00000261405.5:p.Gly839GlufsTer4 | |
| ENST00000261405.9:c.2516del | ENSP00000261405.5:p.Gly839GlufsTer4 | |
| ENST00000538635.5:n.421-42484del | ||
| NM_000552.3:c.2516del | NP_000543.2:p.Gly839GlufsTer4 | |
| NM_000552.4:c.2516del | NP_000543.2:p.Gly839GlufsTer4 | |
| NM_000552.5:c.2516del MANE Select | NP_000543.3:p.Gly839GlufsTer4 |