Linked Data
ClinVar Variation Id:
212775
ClinVar RCV Id:
RCV000195287
dbSNP Id:
rs863223402
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.83971886dup , CM000671.2:g.83971886dup | GRCh38 |
| NC_000009.11:g.86586801dup , CM000671.1:g.86586801dup | GRCh37 |
| NC_000009.10:g.85776621dup | NCBI36 |
| NG_029577.1:g.13774dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000457156.6:c.881+1dup | ||
| ENST00000472778.6:c.*675+1dup | ||
| ENST00000704004.1:c.881+1dup | ||
| ENST00000704005.1:c.953+1dup | ||
| ENST00000704006.1:c.953+1dup | ||
| ENST00000704007.1:c.881+1dup | ||
| ENST00000704008.1:c.881+1dup | ||
| ENST00000704009.1:c.*603+1dup | ||
| ENST00000704010.1:c.953+1dup | ||
| ENST00000704011.1:c.953+1dup | ||
| ENST00000704012.1:c.953+1dup | ||
| ENST00000704013.1:c.881+1dup | ||
| ENST00000704014.1:c.953+1dup | ||
| ENST00000704015.1:c.953+1dup | ||
| ENST00000704016.1:c.881+1dup | ||
| ENST00000704051.1:c.953+1dup | ||
| ENST00000704052.1:c.953+1dup | ||
| ENST00000704053.1:c.953+1dup | ||
| ENST00000704054.1:c.881+1dup | ||
| ENST00000704055.1:c.953+1dup | ||
| ENST00000704056.1:c.881+1dup | ||
| ENST00000704057.1:c.953+1dup | ||
| ENST00000704058.1:c.953+1dup | ||
| ENST00000704059.1:c.953+1dup | ||
| ENST00000376263.8:c.953+1dup | ||
| ENST00000351839.7:c.953+1dup | ||
| ENST00000360384.9:c.953+1dup | ||
| ENST00000376263.7:c.953+1dup | ||
| ENST00000376281.8:c.953+1dup | ||
| ENST00000457156.5:c.881+1dup | ||
| NM_002140.3:c.953+1dup | ||
| NM_031262.2:c.953+1dup | ||
| NM_031263.2:c.953+1dup | ||
| XM_005251960.2:c.953+1dup | ||
| XM_005251961.1:c.953+1dup | ||
| XM_005251963.3:c.881+1dup | ||
| XM_005251964.2:c.881+1dup | ||
| XM_005251965.2:c.881+1dup | ||
| XM_005251966.2:c.881+1dup | ||
| XM_011518616.1:c.881+1dup | ||
| NM_001318186.1:c.881+1dup | ||
| NM_001318187.1:c.881+1dup | ||
| NM_001318188.1:c.953+1dup | ||
| NM_002140.4:c.953+1dup | ||
| NM_031262.3:c.953+1dup | ||
| NM_031263.3:c.953+1dup | ||
| XM_005251963.4:c.881+1dup | ||
| XM_005251965.3:c.881+1dup | ||
| XM_011518616.2:c.881+1dup | ||
| XM_017014668.1:c.953+1dup | ||
| XM_017014669.1:c.881+1dup | ||
| NM_031263.4:c.953+1dup | ||
| NM_001318186.2:c.881+1dup | ||
| NM_001318187.2:c.881+1dup | ||
| NM_001318188.2:c.953+1dup | ||
| NM_002140.5:c.953+1dup | ||
| NM_031262.4:c.953+1dup |