Linked Data
ClinVar Variation Id:
2663555
ClinVar RCV Id:
RCV003442743
gnomAD v4:
4-148435921-AAGGGCTGGAAAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.148435924_148435935del , CM000666.2:g.148435924_148435935del | GRCh38 |
| NC_000004.11:g.149357076_149357087del , CM000666.1:g.149357076_149357087del | GRCh37 |
| NC_000004.10:g.149576526_149576537del | NCBI36 |
| NG_013350.1:g.11588_11599del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358102.8:c.928_939del MANE Select | ENSP00000350815.3:p.Val310_Pro313del | |
| ENST00000342437.8:c.928_939del | ENSP00000343907.4:p.Val310_Pro313del | |
| ENST00000344721.8:c.928_939del | ENSP00000341390.4:p.Val310_Pro313del | |
| ENST00000358102.7:c.928_939del | ENSP00000350815.3:p.Val310_Pro313del | |
| ENST00000511528.1:c.928_939del | ENSP00000421481.1:p.Val310_Pro313del | |
| ENST00000512865.5:c.928_939del | ENSP00000423510.1:p.Val310_Pro313del | |
| ENST00000625323.2:c.928_939del | ENSP00000486719.1:p.Val310_Pro313del | |
| NM_000901.4:c.928_939del | NP_000892.2:p.Val310_Pro313del | |
| NM_001166104.1:c.928_939del | NP_001159576.1:p.Val310_Pro313del | |
| XM_011531975.1:c.928_939del | XP_011530277.1:p.Val310_Pro313del | |
| XM_011531976.1:c.928_939del | XP_011530278.1:p.Val310_Pro313del | |
| XM_011531977.1:c.928_939del | XP_011530279.1:p.Val310_Pro313del | |
| XM_011531978.1:c.928_939del | XP_011530280.1:p.Val310_Pro313del | |
| NM_001354819.1:c.928_939del | NP_001341748.1:p.Val310_Pro313del | |
| NR_148974.1:n.1291_1302del | ||
| XM_011531978.2:c.928_939del | XP_011530280.1:p.Val310_Pro313del | |
| NM_000901.5:c.928_939del MANE Select | NP_000892.2:p.Val310_Pro313del | |
| NM_001166104.2:c.928_939del | NP_001159576.1:p.Val310_Pro313del | |
| NR_148974.2:n.1185_1196del |