Linked Data
dbSNP Id:
rs1568297039
gnomAD v2:
19-12758100-AC-A
gnomAD v4:
19-12647286-AC-A
MyVariant Identifiers:
chr19:g.12758101del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12647288del , CM000681.2:g.12647288del | GRCh38 |
| NC_000019.9:g.12758102del , CM000681.1:g.12758102del | GRCh37 |
| NC_000019.8:g.12619102del | NCBI36 |
| NG_008318.1:g.24491del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2869del MANE Select | ENSP00000395473.2:p.Val957TrpfsTer? | |
| ENST00000221363.8:c.2866del | ENSP00000221363.4:p.Val956TrpfsTer? | |
| ENST00000456935.6:c.2869del | ENSP00000395473.2:p.Val957TrpfsTer? | |
| ENST00000466794.5:n.3459del | ||
| ENST00000469423.1:n.298del | ||
| ENST00000493218.5:n.280del | ||
| ENST00000597692.1:c.428del | ||
| NM_000528.3:c.2869del | NP_000519.2:p.Val957TrpfsTer? | |
| NM_001173498.1:c.2866del | NP_001166969.1:p.Val956TrpfsTer? | |
| XM_005259913.1:c.2872del | XP_005259970.1:p.Val958TrpfsTer? | |
| XM_011528017.1:c.1768del | XP_011526319.1:p.Val590TrpfsTer? | |
| XM_005259913.2:c.2872del | XP_005259970.1:p.Val958TrpfsTer? | |
| XM_024451518.1:c.1768del | XP_024307286.1:p.Val590TrpfsTer? | |
| NM_000528.4:c.2869del MANE Select | NP_000519.2:p.Val957TrpfsTer? | |
| NM_001173498.2:c.2866del | NP_001166969.1:p.Val956TrpfsTer? |