Linked Data
dbSNP Id:
rs1567338170
gnomAD v2:
16-27373776-CG-C
MyVariant Identifiers:
chr16:g.27373777del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.27362457del , CM000678.2:g.27362457del | GRCh38 |
| NC_000016.9:g.27373778del , CM000678.1:g.27373778del | GRCh37 |
| NC_000016.8:g.27281279del | NCBI36 |
| NG_012086.1:g.53528del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395762.7:c.1105del MANE Select | ENSP00000379111.2:p.Val369TrpfsTer9 | |
| ENST00000170630.6:c.1060del | ENSP00000170630.3:p.Val354TrpfsTer9 | |
| ENST00000395762.6:c.1105del | ENSP00000379111.2:p.Val369TrpfsTer9 | |
| ENST00000543915.6:c.1105del | ENSP00000441667.2:p.Val369TrpfsTer9 | |
| ENST00000565352.1:c.230-1646del | ENSP00000461268.1:n.230-1646del | |
| ENST00000565915.5:n.515del | ||
| ENST00000568746.5:c.*1148del | ENSP00000455714.1:n.*1148del | |
| NM_000418.3:c.1105del | NP_000409.1:p.Val369TrpfsTer9 | |
| NM_001257406.1:c.1105del | NP_001244335.1:p.Val369TrpfsTer9 | |
| NM_001257407.1:c.1060del | NP_001244336.1:p.Val354TrpfsTer9 | |
| NM_001257997.1:c.625del | NP_001244926.1:p.Val209TrpfsTer9 | |
| XM_005255308.2:c.214del | XP_005255365.1:p.Val72TrpfsTer9 | |
| XM_006721043.1:c.154del | XP_006721106.1:p.Val52TrpfsTer9 | |
| XM_011545825.1:c.1105del | XP_011544127.1:p.Val369TrpfsTer9 | |
| XM_011545826.1:c.1105del | XP_011544128.1:p.Val369TrpfsTer9 | |
| XM_011545827.1:c.1105del | XP_011544129.1:p.Val369TrpfsTer9 | |
| XM_011545828.1:c.838del | XP_011544130.1:p.Val280TrpfsTer9 | |
| XM_011545829.1:c.808del | XP_011544131.1:p.Val270TrpfsTer9 | |
| XM_011545830.1:c.808del | XP_011544132.1:p.Val270TrpfsTer9 | |
| XM_011545831.1:c.808del | XP_011544133.1:p.Val270TrpfsTer9 | |
| XM_011545832.1:c.808del | XP_011544134.1:p.Val270TrpfsTer9 | |
| XM_011545833.1:c.808del | XP_011544135.1:p.Val270TrpfsTer9 | |
| XM_011545834.1:c.682del | XP_011544136.1:p.Val228TrpfsTer9 | |
| XM_011545826.2:c.1105del | XP_011544128.1:p.Val369TrpfsTer9 | |
| XM_011545827.2:c.1105del | XP_011544129.1:p.Val369TrpfsTer9 | |
| XM_011545828.2:c.838del | XP_011544130.1:p.Val280TrpfsTer9 | |
| XM_011545830.2:c.808del | XP_011544132.1:p.Val270TrpfsTer9 | |
| XM_011545833.2:c.808del | XP_011544135.1:p.Val270TrpfsTer9 | |
| XM_011545834.2:c.682del | XP_011544136.1:p.Val228TrpfsTer9 | |
| XM_017023211.1:c.*140del | XP_016878700.1:n.*140del | |
| NM_000418.4:c.1105del MANE Select | NP_000409.1:p.Val369TrpfsTer9 | |
| NM_001257406.2:c.1105del | NP_001244335.1:p.Val369TrpfsTer9 | |
| NM_001257407.2:c.1060del | NP_001244336.1:p.Val354TrpfsTer9 | |
| NM_001257997.2:c.625del | NP_001244926.1:p.Val209TrpfsTer9 |