Linked Data
dbSNP Id:
rs553782578
gnomAD v2:
19-695064-CAG-C
gnomAD v3:
19-695064-CAG-C
gnomAD v4:
19-695064-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.695065_695066del , CM000681.2:g.695065_695066del | GRCh38 |
| NC_000019.9:g.695065_695066del , CM000681.1:g.695065_695066del | GRCh37 |
| NC_000019.8:g.646065_646066del | NCBI36 |
| NG_051189.1:g.5466_5467del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329267.9:c.80-99_80-98del MANE Select | ENSP00000327386.6:n.80-99_80-98del | |
| ENST00000329267.8:c.80-99_80-98del | ENSP00000327386.6:n.80-99_80-98del | |
| ENST00000613411.4:c.80-96_80-95del | ENSP00000482358.1:n.80-96_80-95del | |
| NM_001308209.1:c.80-99_80-98del | NP_001295138.1:n.80-99_80-98del | |
| NM_214710.3:c.80-96_80-95del | NP_999875.1:n.80-96_80-95del | |
| NM_214710.4:c.80-96_80-95del | NP_999875.1:n.80-96_80-95del | |
| NM_001308209.2:c.80-99_80-98del MANE Select | NP_001295138.2:n.80-99_80-98del | |
| NM_214710.5:c.80-96_80-95del | NP_999875.2:n.80-96_80-95del |