Linked Data
dbSNP Id:
rs981346748
gnomAD v2:
19-11227804-TTTC-T
gnomAD v3:
19-11117128-TTTC-T
gnomAD v4:
19-11117128-TTTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11117134_11117136del , CM000681.2:g.11117134_11117136del | GRCh38 |
| NC_000019.9:g.11227810_11227812del , CM000681.1:g.11227810_11227812del | GRCh37 |
| NC_000019.8:g.11088810_11088812del | NCBI36 |
| NG_009060.1:g.32754_32756del , LRG_274:g.32754_32756del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2103+136_2103+138del | ENSP00000252444.6:n.2103+136_2103+138del | |
| ENST00000559340.2:c.1705+922_1705+924del | ENSP00000453696.2:n.1705+922_1705+924del | |
| ENST00000560467.2:c.1725+136_1725+138del | ENSP00000453513.2:n.1725+136_1725+138del | |
| ENST00000558518.6:c.1845+136_1845+138del MANE Select | ENSP00000454071.1:n.1845+136_1845+138del | |
| ENST00000252444.9:c.2099+136_2099+138del | ||
| ENST00000455727.6:c.1341+136_1341+138del | ENSP00000397829.2:n.1341+136_1341+138del | |
| ENST00000535915.5:c.1722+136_1722+138del | ENSP00000440520.1:n.1722+136_1722+138del | |
| ENST00000545707.5:c.1464+136_1464+138del | ENSP00000437639.1:n.1464+136_1464+138del | |
| ENST00000557933.5:c.1845+136_1845+138del | ENSP00000453557.1:n.1845+136_1845+138del | |
| ENST00000558013.5:c.1845+136_1845+138del | ENSP00000453346.1:n.1845+136_1845+138del | |
| ENST00000558518.5:c.1845+136_1845+138del | ENSP00000454071.1:n.1845+136_1845+138del | |
| ENST00000559340.1:c.426+922_426+924del | ||
| NM_000527.4:c.1845+136_1845+138del , LRG_274t1:c.1845+136_1845+138del | NP_000518.1:n.1845+136_1845+138del | |
| NM_001195798.1:c.1845+136_1845+138del | NP_001182727.1:n.1845+136_1845+138del | |
| NM_001195799.1:c.1722+136_1722+138del | NP_001182728.1:n.1722+136_1722+138del | |
| NM_001195800.1:c.1341+136_1341+138del | NP_001182729.1:n.1341+136_1341+138del | |
| NM_001195803.1:c.1464+136_1464+138del | NP_001182732.1:n.1464+136_1464+138del | |
| XM_011528010.1:c.1845+136_1845+138del | XP_011526312.1:n.1845+136_1845+138del | |
| XM_011528011.1:c.1464+136_1464+138del | XP_011526313.1:n.1464+136_1464+138del | |
| XR_244074.2:n.1855+922_1855+924del | ||
| XM_011528010.2:c.1845+136_1845+138del | XP_011526312.1:n.1845+136_1845+138del | |
| XR_001753685.2:n.1962+136_1962+138del | ||
| XR_001753686.2:n.1822+922_1822+924del | ||
| NM_000527.5:c.1845+136_1845+138del MANE Select | NP_000518.1:n.1845+136_1845+138del | |
| NM_001195798.2:c.1845+136_1845+138del | NP_001182727.1:n.1845+136_1845+138del | |
| NM_001195799.2:c.1722+136_1722+138del | NP_001182728.1:n.1722+136_1722+138del | |
| NM_001195800.2:c.1341+136_1341+138del | NP_001182729.1:n.1341+136_1341+138del | |
| NM_001195803.2:c.1464+136_1464+138del | NP_001182732.1:n.1464+136_1464+138del |