Linked Data
ClinVar Variation Id:
36457
dbSNP Id:
rs386134242
ExAC:
19:11227513 CCTT / C
gnomAD v2:
19-11227513-CCTT-C
gnomAD v4:
19-11116837-CCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11116838_11116840del , CM000681.2:g.11116838_11116840del | GRCh38 |
| NC_000019.9:g.11227514_11227516del , CM000681.1:g.11227514_11227516del | GRCh37 |
| NC_000019.8:g.11088514_11088516del | NCBI36 |
| NG_009060.1:g.32458_32460del , LRG_274:g.32458_32460del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1964-21_1964-19del | ENSP00000252444.6:n.1964-21_1964-19del | |
| ENST00000559340.2:c.1705+626_1705+628del | ENSP00000453696.2:n.1705+626_1705+628del | |
| ENST00000560467.2:c.1586-21_1586-19del | ENSP00000453513.2:n.1586-21_1586-19del | |
| ENST00000558518.6:c.1706-21_1706-19del MANE Select | ENSP00000454071.1:n.1706-21_1706-19del | |
| ENST00000252444.9:c.1960-21_1960-19del | ||
| ENST00000455727.6:c.1202-21_1202-19del | ENSP00000397829.2:n.1202-21_1202-19del | |
| ENST00000535915.5:c.1583-21_1583-19del | ENSP00000440520.1:n.1583-21_1583-19del | |
| ENST00000545707.5:c.1325-21_1325-19del | ENSP00000437639.1:n.1325-21_1325-19del | |
| ENST00000557933.5:c.1706-21_1706-19del | ENSP00000453557.1:n.1706-21_1706-19del | |
| ENST00000558013.5:c.1706-21_1706-19del | ENSP00000453346.1:n.1706-21_1706-19del | |
| ENST00000558518.5:c.1706-21_1706-19del | ENSP00000454071.1:n.1706-21_1706-19del | |
| ENST00000559340.1:c.426+626_426+628del | ||
| NM_000527.4:c.1706-21_1706-19del , LRG_274t1:c.1706-21_1706-19del | NP_000518.1:n.1706-21_1706-19del | |
| NM_001195798.1:c.1706-21_1706-19del | NP_001182727.1:n.1706-21_1706-19del | |
| NM_001195799.1:c.1583-21_1583-19del | NP_001182728.1:n.1583-21_1583-19del | |
| NM_001195800.1:c.1202-21_1202-19del | NP_001182729.1:n.1202-21_1202-19del | |
| NM_001195803.1:c.1325-21_1325-19del | NP_001182732.1:n.1325-21_1325-19del | |
| XM_011528010.1:c.1706-21_1706-19del | XP_011526312.1:n.1706-21_1706-19del | |
| XM_011528011.1:c.1325-21_1325-19del | XP_011526313.1:n.1325-21_1325-19del | |
| XR_244074.2:n.1855+626_1855+628del | ||
| XM_011528010.2:c.1706-21_1706-19del | XP_011526312.1:n.1706-21_1706-19del | |
| XR_001753685.2:n.1823-21_1823-19del | ||
| XR_001753686.2:n.1822+626_1822+628del | ||
| NM_000527.5:c.1706-21_1706-19del MANE Select | NP_000518.1:n.1706-21_1706-19del | |
| NM_001195798.2:c.1706-21_1706-19del | NP_001182727.1:n.1706-21_1706-19del | |
| NM_001195799.2:c.1583-21_1583-19del | NP_001182728.1:n.1583-21_1583-19del | |
| NM_001195800.2:c.1202-21_1202-19del | NP_001182729.1:n.1202-21_1202-19del | |
| NM_001195803.2:c.1325-21_1325-19del | NP_001182732.1:n.1325-21_1325-19del |