Linked Data
ClinVar Variation Id:
156117
dbSNP Id:
rs587777731
ExAC:
3:9932435 CCGGCACCGA / C
gnomAD v2:
3-9932435-CCGGCACCGA-C
gnomAD v3:
3-9890751-CCGGCACCGA-C
gnomAD v4:
3-9890751-CCGGCACCGA-C
MyVariant Identifiers:
chr3:g.9932441_9932449del (hg19)
chr3:g.9932436_9932444del (hg19)
chr3:g.9890757_9890765del (hg38)
chr3:g.9890752_9890760del (hg38)
PubMed:
PMID:25129144
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9890757_9890765del , CM000665.2:g.9890757_9890765del | GRCh38 |
| NC_000003.11:g.9932441_9932449del , CM000665.1:g.9932441_9932449del | GRCh37 |
| NC_000003.10:g.9907441_9907449del | NCBI36 |
| NG_041779.1:g.5171_5179del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000489724.2:c.35_43del | ENSP00000497724.1:p.Thr12_Gly14del | |
| ENST00000647897.1:c.35_43del MANE Select | ENSP00000496942.1:p.Thr12_Gly14del | |
| ENST00000307768.4:c.35_43del | ENSP00000306106.4:p.Thr12_Gly14del | |
| ENST00000489724.1:n.125_133del | ||
| ENST00000616966.2:c.35_43del | ENSP00000481606.1:p.Thr12_Gly14del | |
| NM_032492.3:c.35_43del | NP_115881.3:p.Thr12_Gly14del | |
| NM_001363890.1:c.-234_-226del | NP_001350819.1:n.-234_-226del | |
| NM_032492.4:c.35_43del MANE Select | NP_115881.3:p.Thr12_Gly14del |