Linked Data
dbSNP Id:
rs2035620203
gnomAD v3:
19-853116-TGCTGGCGGGGGGGGGTCCGTCCAGGGCC-T
gnomAD v4:
19-853116-TGCTGGCGGGGGGGGGTCCGTCCAGGGCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.853117_853144del , CM000681.2:g.853117_853144del | GRCh38 |
| NC_000019.9:g.853117_853144del , CM000681.1:g.853117_853144del | GRCh37 |
| NC_000019.8:g.804117_804144del | NCBI36 |
| NG_009627.1:g.5827_5854del , LRG_57:g.5827_5854del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263621.2:c.224+85_224+112del MANE Select | ENSP00000263621.1:n.224+85_224+112del | |
| ENST00000263621.1:c.224+85_224+112del | ENSP00000263621.1:n.224+85_224+112del | |
| ENST00000590230.5:c.224+85_224+112del | ENSP00000466090.1:n.224+85_224+112del | |
| NM_001972.2:c.224+85_224+112del , LRG_57t1:c.224+85_224+112del | NP_001963.1:n.224+85_224+112del | |
| XM_011527775.1:c.224+85_224+112del | XP_011526077.1:n.224+85_224+112del | |
| XM_011527776.1:c.224+85_224+112del | XP_011526078.1:n.224+85_224+112del | |
| NM_001972.3:c.224+85_224+112del | NP_001963.1:n.224+85_224+112del | |
| NM_001972.4:c.224+85_224+112del MANE Select | NP_001963.1:n.224+85_224+112del |