Linked Data
dbSNP Id:
rs781189093
ExAC:
19:11233840 ATTC / A
gnomAD v2:
19-11233840-ATTC-A
gnomAD v4:
19-11123164-ATTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11123167_11123169del , CM000681.2:g.11123167_11123169del | GRCh38 |
| NC_000019.9:g.11233843_11233845del , CM000681.1:g.11233843_11233845del | GRCh37 |
| NC_000019.8:g.11094843_11094845del | NCBI36 |
| NG_009060.1:g.38787_38789del , LRG_274:g.38787_38789del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2399-7_2399-5del | ENSP00000252444.6:n.2399-7_2399-5del | |
| ENST00000559340.2:c.*210-7_*210-5del | ENSP00000453696.2:n.*210-7_*210-5del | |
| ENST00000560467.2:c.2021-7_2021-5del | ENSP00000453513.2:n.2021-7_2021-5del | |
| ENST00000558518.6:c.2141-7_2141-5del MANE Select | ENSP00000454071.1:n.2141-7_2141-5del | |
| ENST00000252444.9:c.2395-7_2395-5del | ||
| ENST00000455727.6:c.1637-7_1637-5del | ENSP00000397829.2:n.1637-7_1637-5del | |
| ENST00000535915.5:c.2018-7_2018-5del | ENSP00000440520.1:n.2018-7_2018-5del | |
| ENST00000545707.5:c.1607-7_1607-5del | ENSP00000437639.1:n.1607-7_1607-5del | |
| ENST00000557933.5:c.2141-7_2141-5del | ENSP00000453557.1:n.2141-7_2141-5del | |
| ENST00000558013.5:c.2141-7_2141-5del | ENSP00000453346.1:n.2141-7_2141-5del | |
| ENST00000558518.5:c.2141-7_2141-5del | ENSP00000454071.1:n.2141-7_2141-5del | |
| NM_000527.4:c.2141-7_2141-5del , LRG_274t1:c.2141-7_2141-5del | NP_000518.1:n.2141-7_2141-5del | |
| NM_001195798.1:c.2141-7_2141-5del | NP_001182727.1:n.2141-7_2141-5del | |
| NM_001195799.1:c.2018-7_2018-5del | NP_001182728.1:n.2018-7_2018-5del | |
| NM_001195800.1:c.1637-7_1637-5del | NP_001182729.1:n.1637-7_1637-5del | |
| NM_001195803.1:c.1607-7_1607-5del | NP_001182732.1:n.1607-7_1607-5del | |
| XM_011528010.1:c.2141-7_2141-5del | XP_011526312.1:n.2141-7_2141-5del | |
| XM_011528011.1:c.1760-7_1760-5del | XP_011526313.1:n.1760-7_1760-5del | |
| XR_244074.2:n.2151-7_2151-5del | ||
| XM_011528010.2:c.2141-7_2141-5del | XP_011526312.1:n.2141-7_2141-5del | |
| XR_001753685.2:n.2475-7_2475-5del | ||
| XR_001753686.2:n.2118-7_2118-5del | ||
| NM_000527.5:c.2141-7_2141-5del MANE Select | NP_000518.1:n.2141-7_2141-5del | |
| NM_001195798.2:c.2141-7_2141-5del | NP_001182727.1:n.2141-7_2141-5del | |
| NM_001195799.2:c.2018-7_2018-5del | NP_001182728.1:n.2018-7_2018-5del | |
| NM_001195800.2:c.1637-7_1637-5del | NP_001182729.1:n.1637-7_1637-5del | |
| NM_001195803.2:c.1607-7_1607-5del | NP_001182732.1:n.1607-7_1607-5del |