Linked Data
ClinVar Variation Id:
226394
dbSNP Id:
rs875989944
gnomAD v2:
19-11240191-CTCCTCGTCT-C
gnomAD v3:
19-11129515-CTCCTCGTCT-C
gnomAD v4:
19-11129515-CTCCTCGTCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11129520_11129528del , CM000681.2:g.11129520_11129528del | GRCh38 |
| NC_000019.9:g.11240196_11240204del , CM000681.1:g.11240196_11240204del | GRCh37 |
| NC_000019.8:g.11101196_11101204del | NCBI36 |
| NG_009060.1:g.45140_45148del , LRG_274:g.45140_45148del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2655_2663del | ENSP00000252444.6:p.Val886_Leu888del | |
| ENST00000559340.2:c.*466_*474del | ENSP00000453696.2:n.*466_*474del | |
| ENST00000560467.2:c.2277_2285del | ENSP00000453513.2:p.Val760_Leu762del | |
| ENST00000558518.6:c.2397_2405del MANE Select | ENSP00000454071.1:p.Val800_Leu802del | |
| ENST00000252444.9:c.2651_2659del | ||
| ENST00000455727.6:c.1893_1901del | ENSP00000397829.2:p.Val632_Leu634del | |
| ENST00000535915.5:c.2274_2282del | ENSP00000440520.1:p.Val759_Leu761del | |
| ENST00000545707.5:c.1863_1871del | ENSP00000437639.1:p.Val622_Leu624del | |
| ENST00000557933.5:c.2459_2467del | ENSP00000453557.1:p.Ser820_Ser822del | |
| ENST00000558013.5:c.2397_2405del | ENSP00000453346.1:p.Val800_Leu802del | |
| ENST00000558518.5:c.2397_2405del | ENSP00000454071.1:p.Val800_Leu802del | |
| ENST00000560628.1:n.108+1866_108+1874del | ||
| NM_000527.4:c.2397_2405del , LRG_274t1:c.2397_2405del | NP_000518.1:p.Val800_Leu802del | |
| NM_001195798.1:c.2397_2405del | NP_001182727.1:p.Val800_Leu802del | |
| NM_001195799.1:c.2274_2282del | NP_001182728.1:p.Val759_Leu761del | |
| NM_001195800.1:c.1893_1901del | NP_001182729.1:p.Val632_Leu634del | |
| NM_001195803.1:c.1863_1871del | NP_001182732.1:p.Val622_Leu624del | |
| XM_011528010.1:c.2319_2327del | XP_011526312.1:p.Val774_Leu776del | |
| XM_011528011.1:c.2016_2024del | XP_011526313.1:p.Val673_Leu675del | |
| XR_244074.2:n.2407_2415del | ||
| XM_011528010.2:c.2319_2327del | XP_011526312.1:p.Val774_Leu776del | |
| XR_001753685.2:n.2731_2739del | ||
| XR_001753686.2:n.2374_2382del | ||
| NM_000527.5:c.2397_2405del MANE Select | NP_000518.1:p.Val800_Leu802del | |
| NM_001195798.2:c.2397_2405del | NP_001182727.1:p.Val800_Leu802del | |
| NM_001195799.2:c.2274_2282del | NP_001182728.1:p.Val759_Leu761del | |
| NM_001195800.2:c.1893_1901del | NP_001182729.1:p.Val632_Leu634del | |
| NM_001195803.2:c.1863_1871del | NP_001182732.1:p.Val622_Leu624del |