Linked Data
ClinVar Variation Id:
555578
ClinVar RCV Id:
RCV000671420
dbSNP Id:
rs1389809925
gnomAD v2:
11-6415271-GGTGA-G
gnomAD v3:
11-6394041-GGTGA-G
gnomAD v4:
11-6394041-GGTGA-G
MyVariant Identifiers:
chr11:g.6415272_6415275del (hg19)
chr11:g.6394047_6394050del (hg38)
chr11:g.6394042_6394045del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6394047_6394050del , CM000673.2:g.6394047_6394050del | GRCh38 |
| NC_000011.9:g.6415277_6415280del , CM000673.1:g.6415277_6415280del | GRCh37 |
| NC_000011.8:g.6371853_6371856del | NCBI36 |
| NG_011780.1:g.8623_8626del | |
| NG_029615.1:g.30370_30373del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.1486+6_1486+9del MANE Select | ENSP00000340409.4:n.1486+6_1486+9del | |
| ENST00000342245.8:c.1486+6_1486+9del | ENSP00000340409.4:n.1486+6_1486+9del | |
| ENST00000526280.1:c.543+6_543+9del | ||
| ENST00000527275.5:c.1483+6_1483+9del | ENSP00000435350.1:n.1483+6_1483+9del | |
| ENST00000531303.5:c.*317+6_*317+9del | ENSP00000432625.1:n.*317+6_*317+9del | |
| ENST00000531336.1:n.324_327del | ||
| ENST00000532367.1:n.328_331del | ||
| ENST00000533123.5:c.*213+6_*213+9del | ENSP00000435950.1:n.*213+6_*213+9del | |
| ENST00000534405.5:c.*317+6_*317+9del | ENSP00000434353.1:n.*317+6_*317+9del | |
| NM_000543.4:c.1486+6_1486+9del | NP_000534.3:n.1486+6_1486+9del | |
| NM_001007593.2:c.1483+6_1483+9del | NP_001007594.2:n.1483+6_1483+9del | |
| XM_005253075.3:c.1486+6_1486+9del | XP_005253132.1:n.1486+6_1486+9del | |
| XM_011520303.1:c.1354+6_1354+9del | XP_011518605.1:n.1354+6_1354+9del | |
| XM_011520304.1:c.1354+6_1354+9del | XP_011518606.1:n.1354+6_1354+9del | |
| NM_001318087.1:c.1486+6_1486+9del | NP_001305016.1:n.1486+6_1486+9del | |
| NM_001318088.1:c.565+6_565+9del | NP_001305017.1:n.565+6_565+9del | |
| NM_001365135.1:c.1354+6_1354+9del | NP_001352064.1:n.1354+6_1354+9del | |
| NR_027400.2:n.1499+6_1499+9del | ||
| NR_134502.1:n.1018+6_1018+9del | ||
| XM_011520304.2:c.1354+6_1354+9del | XP_011518606.1:n.1354+6_1354+9del | |
| XR_001747940.2:n.1651+6_1651+9del | ||
| XR_002957158.1:n.1853+6_1853+9del | ||
| NM_000543.5:c.1486+6_1486+9del MANE Select | NP_000534.3:n.1486+6_1486+9del | |
| NM_001007593.3:c.1483+6_1483+9del | NP_001007594.2:n.1483+6_1483+9del | |
| NM_001318087.2:c.1486+6_1486+9del | NP_001305016.1:n.1486+6_1486+9del | |
| NM_001318088.2:c.565+6_565+9del | NP_001305017.1:n.565+6_565+9del | |
| NM_001365135.2:c.1354+6_1354+9del | NP_001352064.1:n.1354+6_1354+9del | |
| NR_027400.3:n.1439+6_1439+9del | ||
| NR_134502.2:n.958+6_958+9del |