Linked Data
ClinVar Variation Id:
733480
ClinVar RCV Id:
RCV000908777
dbSNP Id:
rs113935713
ExAC:
3:132196815 TA / T
gnomAD v2:
3-132196815-TA-T
gnomAD v3:
3-132477971-TA-T
gnomAD v4:
3-132477971-TA-T
MyVariant Identifiers:
chr3:g.132196819del (hg19)
chr3:g.132196816del (hg19)
chr3:g.132477975del (hg38)
chr3:g.132477972del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132477975del , CM000665.2:g.132477975del | GRCh38 |
| NC_000003.11:g.132196819del , CM000665.1:g.132196819del | GRCh37 |
| NC_000003.10:g.133679509del | NCBI36 |
| NG_051045.1:g.65449del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260818.11:c.2550-6del MANE Select | ENSP00000260818.6:n.2550-6del | |
| ENST00000650455.1:c.*698-6del | ENSP00000496825.1:n.*698-6del | |
| ENST00000260818.10:c.2550-6del | ENSP00000260818.6:n.2550-6del | |
| ENST00000464766.1:n.387-6del | ||
| NM_015268.3:c.2550-6del | NP_056083.3:n.2550-6del | |
| XM_005247245.3:c.2565-6del | XP_005247302.1:n.2565-6del | |
| NM_001329126.1:c.2565-6del | NP_001316055.1:n.2565-6del | |
| XM_017006036.1:c.519-6del | XP_016861525.1:n.519-6del | |
| NM_015268.4:c.2550-6del MANE Select | NP_056083.3:n.2550-6del | |
| NM_001329126.2:c.2565-6del | NP_001316055.1:n.2565-6del |