Linked Data
ClinVar Variation Id:
56633
ClinVar RCV Id:
RCV000050046
dbSNP Id:
rs386834059
MyVariant Identifiers:
chr8:g.100874053_100874056dupGGAC (hg19)
chr8:g.99861825_99861828dupGGAC (hg38)
PubMed:
PMID:15141358
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99861825_99861828dup , CM000670.2:g.99861825_99861828dup | GRCh38 |
| NC_000008.10:g.100874053_100874056dup , CM000670.1:g.100874053_100874056dup | GRCh37 |
| NC_000008.9:g.100943229_100943232dup | NCBI36 |
| NG_007098.2:g.853560_853563dup , LRG_351:g.853560_853563dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*263_*266dup | ENSP00000507923.1:n.*263_*266dup | |
| ENST00000682358.1:n.11239_11242dup | ||
| ENST00000683334.1:c.*6851_*6854dup | ENSP00000507369.1:n.*6851_*6854dup | |
| ENST00000357162.7:c.11094_11097dup MANE Select | ENSP00000349685.2:p.Arg3700GlyfsTer7 | |
| ENST00000358544.7:c.11169_11172dup MANE Plus Clinical | ENSP00000351346.2:p.Arg3725GlyfsTer7 | |
| ENST00000357162.6:c.11094_11097dup | ENSP00000349685.2:p.Arg3700GlyfsTer7 | |
| ENST00000358544.6:c.11169_11172dup | ENSP00000351346.2:p.Arg3725GlyfsTer7 | |
| NM_017890.4:c.11169_11172dup , LRG_351t1:c.11169_11172dup | NP_060360.3:p.Arg3725GlyfsTer7 | |
| NM_152564.4:c.11094_11097dup , LRG_351t2:c.11094_11097dup | NP_689777.3:p.Arg3700GlyfsTer7 | |
| XM_005250800.2:c.11169_11172dup | XP_005250857.1:p.Arg3725GlyfsTer7 | |
| XM_005250801.3:c.11169_11172dup | XP_005250858.1:p.Arg3725GlyfsTer7 | |
| XM_011516848.1:c.11166_11169dup | XP_011515150.1:p.Arg3724GlyfsTer7 | |
| XM_011516849.1:c.11091_11094dup | XP_011515151.1:p.Arg3699GlyfsTer7 | |
| XM_011516850.1:c.10791_10794dup | XP_011515152.1:p.Arg3599GlyfsTer7 | |
| XM_011516851.1:c.8055_8058dup | XP_011515153.1:p.Arg2687GlyfsTer7 | |
| XM_011516852.1:c.8055_8058dup | XP_011515154.1:p.Arg2687GlyfsTer7 | |
| XM_011516854.1:c.6948_6951dup | XP_011515156.1:p.Arg2318GlyfsTer7 | |
| XM_005250800.3:c.11169_11172dup | XP_005250857.1:p.Arg3725GlyfsTer7 | |
| XM_005250801.5:c.11169_11172dup | XP_005250858.1:p.Arg3725GlyfsTer7 | |
| XM_011516848.2:c.11166_11169dup | XP_011515150.1:p.Arg3724GlyfsTer7 | |
| XM_011516849.2:c.11091_11094dup | XP_011515151.1:p.Arg3699GlyfsTer7 | |
| XM_011516850.2:c.10791_10794dup | XP_011515152.1:p.Arg3599GlyfsTer7 | |
| XM_011516851.2:c.8055_8058dup | XP_011515153.1:p.Arg2687GlyfsTer7 | |
| XM_011516852.2:c.8055_8058dup | XP_011515154.1:p.Arg2687GlyfsTer7 | |
| XM_011516854.2:c.6948_6951dup | XP_011515156.1:p.Arg2318GlyfsTer7 | |
| XM_017013109.1:c.10974_10977dup | XP_016868598.1:p.Arg3660GlyfsTer7 | |
| XM_017013111.1:c.8055_8058dup | XP_016868600.1:p.Arg2687GlyfsTer7 | |
| XM_017013112.1:c.6726_6729dup | XP_016868601.1:p.Arg2244GlyfsTer7 | |
| XM_024447074.1:c.9954_9957dup | XP_024302842.1:p.Arg3320GlyfsTer7 | |
| NM_017890.5:c.11169_11172dup MANE Plus Clinical | NP_060360.3:p.Arg3725GlyfsTer7 | |
| NM_152564.5:c.11094_11097dup MANE Select | NP_689777.3:p.Arg3700GlyfsTer7 |