Linked Data
ClinVar Variation Id:
552493
ClinVar RCV Id:
RCV000667765
dbSNP Id:
rs1382534368
gnomAD v2:
11-6411970-GCTCTGT-G
gnomAD v3:
11-6390740-GCTCTGT-G
gnomAD v4:
11-6390740-GCTCTGT-G
MyVariant Identifiers:
chr11:g.6411971_6411976del (hg19)
chr11:g.6390743_6390748del (hg38)
chr11:g.6390741_6390746del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6390743_6390748del , CM000673.2:g.6390743_6390748del | GRCh38 |
| NC_000011.9:g.6411973_6411978del , CM000673.1:g.6411973_6411978del | GRCh37 |
| NC_000011.8:g.6368549_6368554del | NCBI36 |
| NG_011780.1:g.5319_5324del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.145_150del MANE Select | ENSP00000340409.4:p.Leu49_Ser50del | |
| ENST00000342245.8:c.145_150del | ENSP00000340409.4:p.Leu49_Ser50del | |
| ENST00000527275.5:c.145_150del | ENSP00000435350.1:p.Leu49_Ser50del | |
| ENST00000530395.1:c.-96+104_-96+109del | ENSP00000431479.1:n.-96+104_-96+109del | |
| ENST00000531303.5:c.145_150del | ENSP00000432625.1:p.Leu49_Ser50del | |
| ENST00000533123.5:c.145_150del | ENSP00000435950.1:p.Leu49_Ser50del | |
| ENST00000533196.1:n.304_309del | ||
| ENST00000534405.5:c.145_150del | ENSP00000434353.1:p.Leu49_Ser50del | |
| NM_000543.4:c.145_150del | NP_000534.3:p.Leu49_Ser50del | |
| NM_001007593.2:c.145_150del | NP_001007594.2:p.Leu49_Ser50del | |
| XM_005253075.3:c.145_150del | XP_005253132.1:p.Leu49_Ser50del | |
| XM_011520303.1:c.145_150del | XP_011518605.1:p.Leu49_Ser50del | |
| XM_011520304.1:c.145_150del | XP_011518606.1:p.Leu49_Ser50del | |
| XR_930886.1:n.443_448del | ||
| NM_001318087.1:c.145_150del | NP_001305016.1:p.Leu49_Ser50del | |
| NM_001318088.1:c.-817_-812del | NP_001305017.1:n.-817_-812del | |
| NM_001365135.1:c.145_150del | NP_001352064.1:p.Leu49_Ser50del | |
| NR_027400.2:n.330_335del | ||
| NR_134502.1:n.330_335del | ||
| XM_011520304.2:c.145_150del | XP_011518606.1:p.Leu49_Ser50del | |
| XR_001747940.2:n.270_275del | ||
| XR_002957158.1:n.270_275del | ||
| NM_000543.5:c.145_150del MANE Select | NP_000534.3:p.Leu49_Ser50del | |
| NM_001007593.3:c.145_150del | NP_001007594.2:p.Leu49_Ser50del | |
| NM_001318087.2:c.145_150del | NP_001305016.1:p.Leu49_Ser50del | |
| NM_001318088.2:c.-817_-812del | NP_001305017.1:n.-817_-812del | |
| NM_001365135.2:c.145_150del | NP_001352064.1:p.Leu49_Ser50del | |
| NR_027400.3:n.270_275del | ||
| NR_134502.2:n.270_275del |