Linked Data
ClinVar Variation Id:
948821
ClinVar RCV Id:
RCV001220152
dbSNP Id:
rs1948391239
gnomAD v3:
12-21913008-G-GCT
gnomAD v4:
12-21913008-G-GCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21913011_21913012dup , CM000674.2:g.21913011_21913012dup | GRCh38 |
| NC_000012.11:g.22065945_22065946dup , CM000674.1:g.22065945_22065946dup | GRCh37 |
| NC_000012.10:g.21957212_21957213dup | NCBI36 |
| NG_012819.1:g.28685_28686dup , LRG_377:g.28685_28686dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261201.10:c.873_874dup | ENSP00000261201.4:p.Ala292GlufsTer31 | |
| ENST00000682068.1:c.873_874dup | ENSP00000507226.1:p.Ala292GlufsTer31 | |
| ENST00000682789.1:n.1124_1125dup | ||
| ENST00000682879.1:c.463_464dup | ENSP00000508210.1:p.Ser155ArgfsTer? | |
| ENST00000683105.1:c.873_874dup | ENSP00000506801.1:p.Ala292GlufsTer31 | |
| ENST00000683676.1:c.873_874dup | ENSP00000508167.1:p.Ala292GlufsTer31 | |
| ENST00000684084.1:c.873_874dup | ENSP00000507859.1:p.Ala292GlufsTer31 | |
| ENST00000684543.1:n.1218_1219dup | ||
| ENST00000261200.9:c.873_874dup MANE Select | ENSP00000261200.4:p.Ala292GlufsTer31 | |
| ENST00000261201.9:c.873_874dup | ENSP00000261201.4:p.Ala292GlufsTer31 | |
| ENST00000261200.8:c.873_874dup | ENSP00000261200.4:p.Ala292GlufsTer31 | |
| ENST00000261201.8:c.873_874dup | ENSP00000261201.4:p.Ala292GlufsTer31 | |
| NM_005691.3:c.873_874dup | NP_005682.2:p.Ala292GlufsTer31 | |
| NM_020297.3:c.873_874dup | NP_064693.2:p.Ala292GlufsTer31 | |
| XM_005253284.2:c.873_874dup | XP_005253341.1:p.Ala292GlufsTer31 | |
| XM_005253286.2:c.873_874dup | XP_005253343.1:p.Ala292GlufsTer31 | |
| XM_005253287.3:c.873_874dup | XP_005253344.1:p.Ala292GlufsTer31 | |
| XM_005253288.2:c.873_874dup | XP_005253345.1:p.Ala292GlufsTer31 | |
| XM_005253289.2:c.873_874dup | XP_005253346.1:p.Ala292GlufsTer31 | |
| XM_005253290.2:c.873_874dup | XP_005253347.1:p.Ala292GlufsTer31 | |
| XM_006719025.2:c.873_874dup | XP_006719088.1:p.Ala292GlufsTer31 | |
| XM_011520545.1:c.873_874dup | XP_011518847.1:p.Ala292GlufsTer31 | |
| XM_005253284.4:c.873_874dup | XP_005253341.1:p.Ala292GlufsTer31 | |
| XM_005253286.4:c.873_874dup | XP_005253343.1:p.Ala292GlufsTer31 | |
| XM_005253287.5:c.873_874dup | XP_005253344.1:p.Ala292GlufsTer31 | |
| XM_005253288.4:c.873_874dup | XP_005253345.1:p.Ala292GlufsTer31 | |
| XM_005253289.4:c.873_874dup | XP_005253346.1:p.Ala292GlufsTer31 | |
| XM_005253290.4:c.873_874dup | XP_005253347.1:p.Ala292GlufsTer31 | |
| XM_006719025.4:c.873_874dup | XP_006719088.1:p.Ala292GlufsTer31 | |
| XM_011520545.3:c.873_874dup | XP_011518847.1:p.Ala292GlufsTer31 | |
| NM_001377273.1:c.873_874dup | NP_001364202.1:p.Ala292GlufsTer31 | |
| NM_001377274.1:c.9_10dup | NP_001364203.1:p.Ala4GlufsTer31 | |
| NM_005691.4:c.873_874dup | NP_005682.2:p.Ala292GlufsTer31 | |
| NM_020297.4:c.873_874dup MANE Select | NP_064693.2:p.Ala292GlufsTer31 |