Linked Data
ClinVar Variation Id:
2843694
ClinVar RCV Id:
RCV003742085
dbSNP Id:
rs1600727285
gnomAD v4:
19-11113548-AGAGCCCACG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11113550_11113558del , CM000681.2:g.11113550_11113558del | GRCh38 |
| NC_000019.9:g.11224226_11224234del , CM000681.1:g.11224226_11224234del | GRCh37 |
| NC_000019.8:g.11085226_11085234del | NCBI36 |
| NG_009060.1:g.29170_29178del , LRG_274:g.29170_29178del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1632_1640del | ENSP00000252444.6:p.Arg544_Gly547delinsSer | |
| ENST00000559340.2:c.1374_1382del | ENSP00000453696.2:p.Arg458_Gly461delinsSer | |
| ENST00000560467.2:c.1254_1262del | ENSP00000453513.2:p.Arg418_Gly421delinsSer | |
| ENST00000558518.6:c.1374_1382del MANE Select | ENSP00000454071.1:p.Arg458_Gly461delinsSer | |
| ENST00000252444.9:c.1628_1636del | ||
| ENST00000455727.6:c.870_878del | ENSP00000397829.2:p.Arg290_Gly293delinsSer | |
| ENST00000535915.5:c.1251_1259del | ENSP00000440520.1:p.Arg417_Gly420delinsSer | |
| ENST00000545707.5:c.993_1001del | ENSP00000437639.1:p.Arg331_Gly334delinsSer | |
| ENST00000557933.5:c.1374_1382del | ENSP00000453557.1:p.Arg458_Gly461delinsSer | |
| ENST00000558013.5:c.1374_1382del | ENSP00000453346.1:p.Arg458_Gly461delinsSer | |
| ENST00000558518.5:c.1374_1382del | ENSP00000454071.1:p.Arg458_Gly461delinsSer | |
| ENST00000559340.1:c.95_103del | ||
| ENST00000560467.1:c.854_862del | ||
| NM_000527.4:c.1374_1382del , LRG_274t1:c.1374_1382del | NP_000518.1:p.Arg458_Gly461delinsSer | |
| NM_001195798.1:c.1374_1382del | NP_001182727.1:p.Arg458_Gly461delinsSer | |
| NM_001195799.1:c.1251_1259del | NP_001182728.1:p.Arg417_Gly420delinsSer | |
| NM_001195800.1:c.870_878del | NP_001182729.1:p.Arg290_Gly293delinsSer | |
| NM_001195803.1:c.993_1001del | NP_001182732.1:p.Arg331_Gly334delinsSer | |
| XM_011528010.1:c.1374_1382del | XP_011526312.1:p.Arg458_Gly461delinsSer | |
| XM_011528011.1:c.993_1001del | XP_011526313.1:p.Arg331_Gly334delinsSer | |
| XR_244074.2:n.1524_1532del | ||
| XM_011528010.2:c.1374_1382del | XP_011526312.1:p.Arg458_Gly461delinsSer | |
| XR_001753685.2:n.1491_1499del | ||
| XR_001753686.2:n.1491_1499del | ||
| NM_000527.5:c.1374_1382del MANE Select | NP_000518.1:p.Arg458_Gly461delinsSer | |
| NM_001195798.2:c.1374_1382del | NP_001182727.1:p.Arg458_Gly461delinsSer | |
| NM_001195799.2:c.1251_1259del | NP_001182728.1:p.Arg417_Gly420delinsSer | |
| NM_001195800.2:c.870_878del | NP_001182729.1:p.Arg290_Gly293delinsSer | |
| NM_001195803.2:c.993_1001del | NP_001182732.1:p.Arg331_Gly334delinsSer |