Linked Data
dbSNP Id:
rs761676408
ExAC:
6:31238907 ACGTGCC / A
gnomAD v3:
6-31271130-ACGTGCC-A
gnomAD v4:
6-31271130-ACGTGCC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271132_31271137del , CM000668.2:g.31271132_31271137del | GRCh38 |
| NC_000006.11:g.31238909_31238914del , CM000668.1:g.31238909_31238914del | GRCh37 |
| NC_000006.10:g.31346888_31346893del | NCBI36 |
| NG_029422.2:g.5996_6001del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.556_561del MANE Select | ENSP00000365402.5:p.Gly186_Thr187del | |
| ENST00000376228.9:c.556_561del | ENSP00000365402.5:p.Gly186_Thr187del | |
| ENST00000376237.8:c.*143_*148del | ENSP00000365412.4:n.*143_*148del | |
| ENST00000383329.7:c.556_561del | ENSP00000372819.3:p.Gly186_Thr187del | |
| ENST00000415537.1:c.554_559del | ||
| ENST00000484378.1:n.825_830del | ||
| ENST00000487245.5:n.915_920del | ||
| ENST00000495835.1:n.745_750del | ||
| NM_002117.5:c.556_561del | NP_002108.4:p.Gly186_Thr187del | |
| NM_002117.6:c.556_561del MANE Select | NP_002108.4:p.Gly186_Thr187del |