Linked Data
dbSNP Id:
rs749193790
ExAC:
19:11238713 GAGA / G
gnomAD v2:
19-11238713-GAGA-G
gnomAD v4:
19-11128037-GAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11128043_11128045del , CM000681.2:g.11128043_11128045del | GRCh38 |
| NC_000019.9:g.11238719_11238721del , CM000681.1:g.11238719_11238721del | GRCh37 |
| NC_000019.8:g.11099719_11099721del | NCBI36 |
| NG_009060.1:g.43663_43665del , LRG_274:g.43663_43665del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2605_2607del | ENSP00000252444.6:p.Lys869del | |
| ENST00000559340.2:c.*416_*418del | ENSP00000453696.2:n.*416_*418del | |
| ENST00000560467.2:c.2227_2229del | ENSP00000453513.2:p.Lys743del | |
| ENST00000558518.6:c.2347_2349del MANE Select | ENSP00000454071.1:p.Lys783del | |
| ENST00000252444.9:c.2601_2603del | ||
| ENST00000455727.6:c.1843_1845del | ENSP00000397829.2:p.Lys615del | |
| ENST00000535915.5:c.2224_2226del | ENSP00000440520.1:p.Lys742del | |
| ENST00000545707.5:c.1813_1815del | ENSP00000437639.1:p.Lys605del | |
| ENST00000557933.5:c.2347_2349del | ENSP00000453557.1:p.Lys783del | |
| ENST00000558013.5:c.2347_2349del | ENSP00000453346.1:p.Lys783del | |
| ENST00000558518.5:c.2347_2349del | ENSP00000454071.1:p.Lys783del | |
| ENST00000560628.1:n.108+389_108+391del | ||
| NM_000527.4:c.2347_2349del , LRG_274t1:c.2347_2349del | NP_000518.1:p.Lys783del | |
| NM_001195798.1:c.2347_2349del | NP_001182727.1:p.Lys783del | |
| NM_001195799.1:c.2224_2226del | NP_001182728.1:p.Lys742del | |
| NM_001195800.1:c.1843_1845del | NP_001182729.1:p.Lys615del | |
| NM_001195803.1:c.1813_1815del | NP_001182732.1:p.Lys605del | |
| XM_011528010.1:c.2312-1470_2312-1468del | XP_011526312.1:n.2312-1470_2312-1468del | |
| XM_011528011.1:c.1966_1968del | XP_011526313.1:p.Lys656del | |
| XR_244074.2:n.2357_2359del | ||
| XM_011528010.2:c.2312-1470_2312-1468del | XP_011526312.1:n.2312-1470_2312-1468del | |
| XR_001753685.2:n.2681_2683del | ||
| XR_001753686.2:n.2324_2326del | ||
| NM_000527.5:c.2347_2349del MANE Select | NP_000518.1:p.Lys783del | |
| NM_001195798.2:c.2347_2349del | NP_001182727.1:p.Lys783del | |
| NM_001195799.2:c.2224_2226del | NP_001182728.1:p.Lys742del | |
| NM_001195800.2:c.1843_1845del | NP_001182729.1:p.Lys615del | |
| NM_001195803.2:c.1813_1815del | NP_001182732.1:p.Lys605del |