Linked Data
dbSNP Id:
rs1219881048
gnomAD v3:
19-11112987-C-CCTTTTTTTT
gnomAD v4:
19-11112987-C-CCTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11112987_11112988insCTTTTTTTT , CM000681.2:g.11112987_11112988insCTTTTTTTT | GRCh38 |
| NC_000019.9:g.11223663_11223664insCTTTTTTTT , CM000681.1:g.11223663_11223664insCTTTTTTTT | GRCh37 |
| NC_000019.8:g.11084663_11084664insCTTTTTTTT | NCBI36 |
| NG_009060.1:g.28607_28608insCTTTTTTTT , LRG_274:g.28607_28608insCTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1445-291_1445-290insCTTTTTTTT | ENSP00000252444.6:n.1445-291_1445-290insCTTTTTTTT | |
| ENST00000559340.2:c.1187-291_1187-290insCTTTTTTTT | ENSP00000453696.2:n.1187-291_1187-290insCTTTTTTTT | |
| ENST00000560467.2:c.1067-291_1067-290insCTTTTTTTT | ENSP00000453513.2:n.1067-291_1067-290insCTTTTTTTT | |
| ENST00000558518.6:c.1187-291_1187-290insCTTTTTTTT MANE Select | ENSP00000454071.1:n.1187-291_1187-290insCTTTTTTTT | |
| ENST00000252444.9:c.1441-291_1441-290insCTTTTTTTT | ||
| ENST00000455727.6:c.683-291_683-290insCTTTTTTTT | ENSP00000397829.2:n.683-291_683-290insCTTTTTTTT | |
| ENST00000535915.5:c.1064-291_1064-290insCTTTTTTTT | ENSP00000440520.1:n.1064-291_1064-290insCTTTTTTTT | |
| ENST00000545707.5:c.806-291_806-290insCTTTTTTTT | ENSP00000437639.1:n.806-291_806-290insCTTTTTTTT | |
| ENST00000557933.5:c.1187-291_1187-290insCTTTTTTTT | ENSP00000453557.1:n.1187-291_1187-290insCTTTTTTTT | |
| ENST00000558013.5:c.1187-291_1187-290insCTTTTTTTT | ENSP00000453346.1:n.1187-291_1187-290insCTTTTTTTT | |
| ENST00000558518.5:c.1187-291_1187-290insCTTTTTTTT | ENSP00000454071.1:n.1187-291_1187-290insCTTTTTTTT | |
| ENST00000560173.1:n.186-291_186-290insCTTTTTTTT | ||
| ENST00000560467.1:c.667-291_667-290insCTTTTTTTT | ||
| NM_000527.4:c.1187-291_1187-290insCTTTTTTTT , LRG_274t1:c.1187-291_1187-290insCTTTTTTTT | NP_000518.1:n.1187-291_1187-290insCTTTTTTTT | |
| NM_001195798.1:c.1187-291_1187-290insCTTTTTTTT | NP_001182727.1:n.1187-291_1187-290insCTTTTTTTT | |
| NM_001195799.1:c.1064-291_1064-290insCTTTTTTTT | NP_001182728.1:n.1064-291_1064-290insCTTTTTTTT | |
| NM_001195800.1:c.683-291_683-290insCTTTTTTTT | NP_001182729.1:n.683-291_683-290insCTTTTTTTT | |
| NM_001195803.1:c.806-291_806-290insCTTTTTTTT | NP_001182732.1:n.806-291_806-290insCTTTTTTTT | |
| XM_011528010.1:c.1187-291_1187-290insCTTTTTTTT | XP_011526312.1:n.1187-291_1187-290insCTTTTTTTT | |
| XM_011528011.1:c.806-291_806-290insCTTTTTTTT | XP_011526313.1:n.806-291_806-290insCTTTTTTTT | |
| XR_244074.2:n.1337-291_1337-290insCTTTTTTTT | ||
| XM_011528010.2:c.1187-291_1187-290insCTTTTTTTT | XP_011526312.1:n.1187-291_1187-290insCTTTTTTTT | |
| XR_001753685.2:n.1304-291_1304-290insCTTTTTTTT | ||
| XR_001753686.2:n.1304-291_1304-290insCTTTTTTTT | ||
| NM_000527.5:c.1187-291_1187-290insCTTTTTTTT MANE Select | NP_000518.1:n.1187-291_1187-290insCTTTTTTTT | |
| NM_001195798.2:c.1187-291_1187-290insCTTTTTTTT | NP_001182727.1:n.1187-291_1187-290insCTTTTTTTT | |
| NM_001195799.2:c.1064-291_1064-290insCTTTTTTTT | NP_001182728.1:n.1064-291_1064-290insCTTTTTTTT | |
| NM_001195800.2:c.683-291_683-290insCTTTTTTTT | NP_001182729.1:n.683-291_683-290insCTTTTTTTT | |
| NM_001195803.2:c.806-291_806-290insCTTTTTTTT | NP_001182732.1:n.806-291_806-290insCTTTTTTTT |