Linked Data
ClinVar Variation Id:
420155
dbSNP Id:
rs764196809
ExAC:
17:73830173 ACTCC / A
gnomAD v2:
17-73830173-ACTCC-A
gnomAD v3:
17-75834092-ACTCC-A
gnomAD v4:
17-75834092-ACTCC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75834095_75834098del , CM000679.2:g.75834095_75834098del | GRCh38 |
| NC_000017.10:g.73830176_73830179del , CM000679.1:g.73830176_73830179del | GRCh37 |
| NC_000017.9:g.71341771_71341774del | NCBI36 |
| NG_007266.1:g.15622_15625del , LRG_122:g.15622_15625del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699510.1:c.1212_1215del | ENSP00000514405.1:p.Arg404SerfsTer12 | |
| ENST00000207549.9:c.2346_2349del MANE Select | ENSP00000207549.3:p.Arg782SerfsTer12 | |
| ENST00000207549.8:c.2346_2349del | ENSP00000207549.3:p.Arg782SerfsTer12 | |
| ENST00000412096.6:c.2346_2349del | ENSP00000388093.1:p.Arg782SerfsTer12 | |
| ENST00000591563.5:n.2616_2619del | ||
| NM_199242.2:c.2346_2349del , LRG_122t1:c.2346_2349del | NP_954712.1:p.Arg782SerfsTer12 | |
| XM_011524504.1:c.2346_2349del | XP_011522806.1:p.Arg782SerfsTer12 | |
| XM_011524505.1:c.2346_2349del | XP_011522807.1:p.Arg782SerfsTer12 | |
| XM_011524506.1:c.2343_2346del | XP_011522808.1:p.Arg781SerfsTer12 | |
| XM_011524507.1:c.1737_1740del | XP_011522809.1:p.Arg579SerfsTer12 | |
| XM_011524508.1:c.1737_1740del | XP_011522810.1:p.Arg579SerfsTer12 | |
| XM_011524504.2:c.2346_2349del | XP_011522806.1:p.Arg782SerfsTer12 | |
| XM_011524507.2:c.1737_1740del | XP_011522809.1:p.Arg579SerfsTer12 | |
| XM_024450640.1:c.1737_1740del | XP_024306408.1:p.Arg579SerfsTer12 | |
| NM_199242.3:c.2346_2349del MANE Select | NP_954712.1:p.Arg782SerfsTer12 |