Linked Data
ClinVar Variation Id:
1931894
ClinVar RCV Id:
RCV002622295
dbSNP Id:
rs769501628
ExAC:
11:94169078 C / CA
gnomAD v2:
11-94169078-C-CA
gnomAD v4:
11-94435912-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94435915dup , CM000673.2:g.94435915dup | GRCh38 |
| NC_000011.9:g.94169081dup , CM000673.1:g.94169081dup | GRCh37 |
| NC_000011.8:g.93808729dup | NCBI36 |
| NG_007261.1:g.62962dup , LRG_85:g.62962dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323929.8:c.1927-14dup MANE Select | ENSP00000325863.4:n.1927-14dup | |
| ENST00000323929.7:c.1927-14dup | ENSP00000325863.3:n.1927-14dup | |
| ENST00000323977.7:c.1843-14dup | ENSP00000326094.3:n.1843-14dup | |
| ENST00000393241.8:c.1924-14dup | ENSP00000376933.4:n.1924-14dup | |
| ENST00000407439.7:c.1936-14dup | ENSP00000385614.3:n.1936-14dup | |
| NM_005590.3:c.1843-14dup | NP_005581.2:n.1843-14dup | |
| NM_005591.3:c.1927-14dup , LRG_85t1:c.1927-14dup | NP_005582.1:n.1927-14dup | |
| XM_005274008.2:c.1459-14dup | XP_005274065.1:n.1459-14dup | |
| XM_006718842.2:c.1924-14dup | XP_006718905.1:n.1924-14dup | |
| XM_011542837.1:c.1927-14dup | XP_011541139.1:n.1927-14dup | |
| XR_947828.1:n.2223-14dup | ||
| NM_001330347.1:c.1924-14dup | NP_001317276.1:n.1924-14dup | |
| XM_005274008.3:c.1459-14dup | XP_005274065.1:n.1459-14dup | |
| XM_006718842.3:c.1924-14dup | XP_006718905.1:n.1924-14dup | |
| XM_011542837.2:c.1927-14dup | XP_011541139.1:n.1927-14dup | |
| XM_017017772.1:c.1927-14dup | XP_016873261.1:n.1927-14dup | |
| XR_947828.2:n.2223-14dup | ||
| NM_001330347.2:c.1924-14dup | NP_001317276.1:n.1924-14dup | |
| NM_005590.4:c.1843-14dup | NP_005581.2:n.1843-14dup | |
| NM_005591.4:c.1927-14dup MANE Select | NP_005582.1:n.1927-14dup |