Linked Data
ClinVar Variation Id:
839633
ClinVar RCV Id:
RCV001041434
dbSNP Id:
rs1490771127
gnomAD v3:
2-19930540-AG-A
gnomAD v4:
2-19930540-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19930542del , CM000664.2:g.19930542del | GRCh38 |
| NC_000002.11:g.20130303del , CM000664.1:g.20130303del | GRCh37 |
| NC_000002.10:g.19993784del | NCBI36 |
| NG_021212.1:g.64583del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.2976del MANE Select | ENSP00000281405.5:p.Leu993TrpfsTer? | |
| ENST00000345530.8:c.3009del MANE Plus Clinical | ENSP00000314444.5:p.Leu1004TrpfsTer? | |
| ENST00000281405.8:c.2976del | ENSP00000281405.4:p.Leu993TrpfsTer? | |
| ENST00000345530.7:c.3009del | ENSP00000314444.5:p.Leu1004TrpfsTer? | |
| ENST00000414212.5:c.*291del | ENSP00000390802.1:n.*291del | |
| ENST00000445063.5:c.2176del | ||
| NM_001006657.1:c.3009del | NP_001006658.1:p.Leu1004TrpfsTer? | |
| NM_020779.3:c.2976del | NP_065830.2:p.Leu993TrpfsTer? | |
| XM_011533007.1:c.1704del | XP_011531309.1:p.Leu569TrpfsTer? | |
| XR_426989.2:n.2909del | ||
| XM_011533007.2:c.1704del | XP_011531309.1:p.Leu569TrpfsTer? | |
| XR_426989.3:n.2909del | ||
| NM_001006657.2:c.3009del MANE Plus Clinical | NP_001006658.1:p.Leu1004TrpfsTer? | |
| NM_020779.4:c.2976del MANE Select | NP_065830.2:p.Leu993TrpfsTer? |