Linked Data
ClinVar Variation Id:
186193
ClinVar RCV Id:
RCV000165739
dbSNP Id:
rs786202764
gnomAD v2:
11-94197368-A-AG
gnomAD v4:
11-94464202-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94464203dup , CM000673.2:g.94464203dup | GRCh38 |
| NC_000011.9:g.94197369dup , CM000673.1:g.94197369dup | GRCh37 |
| NC_000011.8:g.93837017dup | NCBI36 |
| NG_007261.1:g.34672dup , LRG_85:g.34672dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323929.8:c.1135dup MANE Select | ENSP00000325863.4:p.Leu379ProfsTer4 | |
| ENST00000323929.7:c.1135dup | ENSP00000325863.3:p.Leu379ProfsTer4 | |
| ENST00000323977.7:c.1135dup | ENSP00000326094.3:p.Leu379ProfsTer4 | |
| ENST00000393241.8:c.1135dup | ENSP00000376933.4:p.Leu379ProfsTer4 | |
| ENST00000407439.7:c.1144dup | ENSP00000385614.3:p.Leu382ProfsTer4 | |
| NM_005590.3:c.1135dup | NP_005581.2:p.Leu379ProfsTer4 | |
| NM_005591.3:c.1135dup , LRG_85t1:c.1135dup | NP_005582.1:p.Leu379ProfsTer4 | |
| XM_005274008.2:c.667dup | XP_005274065.1:p.Leu223ProfsTer4 | |
| XM_006718842.2:c.1135dup | XP_006718905.1:p.Leu379ProfsTer4 | |
| XM_011542837.1:c.1135dup | XP_011541139.1:p.Leu379ProfsTer4 | |
| XR_947828.1:n.1431dup | ||
| NM_001330347.1:c.1135dup | NP_001317276.1:p.Leu379ProfsTer4 | |
| XM_005274008.3:c.667dup | XP_005274065.1:p.Leu223ProfsTer4 | |
| XM_006718842.3:c.1135dup | XP_006718905.1:p.Leu379ProfsTer4 | |
| XM_011542837.2:c.1135dup | XP_011541139.1:p.Leu379ProfsTer4 | |
| XM_017017772.1:c.1135dup | XP_016873261.1:p.Leu379ProfsTer4 | |
| XR_947828.2:n.1431dup | ||
| NM_001330347.2:c.1135dup | NP_001317276.1:p.Leu379ProfsTer4 | |
| NM_005590.4:c.1135dup | NP_005581.2:p.Leu379ProfsTer4 | |
| NM_005591.4:c.1135dup MANE Select | NP_005582.1:p.Leu379ProfsTer4 |