Linked Data
ClinVar Variation Id:
370669
dbSNP Id:
rs1057516672
gnomAD v3:
5-119475719-C-CA
gnomAD v4:
5-119475719-C-CA
PubMed:
PMID:23100014
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119475721dup , CM000667.2:g.119475721dup | GRCh38 |
| NC_000005.9:g.118811416dup , CM000667.1:g.118811416dup | GRCh37 |
| NC_000005.8:g.118839315dup | NCBI36 |
| NG_008182.1:g.28269dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000509514.6:c.296dup | ENSP00000426272.2:p.Asn99LysfsTer12 | |
| ENST00000518349.6:c.112+19353dup | ENSP00000507185.1:n.112+19353dup | |
| ENST00000682445.1:c.*177dup | ENSP00000508061.1:n.*177dup | |
| ENST00000682531.1:n.397dup | ||
| ENST00000682626.1:c.371dup | ENSP00000507857.1:p.Asn124LysfsTer5 | |
| ENST00000682996.1:c.296dup | ENSP00000507792.1:p.Asn99LysfsTer12 | |
| ENST00000683265.1:n.389dup | ||
| ENST00000683371.1:c.*426dup | ENSP00000508376.1:n.*426dup | |
| ENST00000683390.1:n.344dup | ||
| ENST00000683936.1:c.*181dup | ENSP00000507721.1:n.*181dup | |
| ENST00000683974.1:n.378dup | ||
| ENST00000684160.1:c.371dup | ENSP00000507821.1:p.Asn124LysfsTer12 | |
| ENST00000684214.1:c.296dup | ENSP00000508071.1:p.Asn99LysfsTer12 | |
| ENST00000414835.7:c.371dup | ENSP00000411960.3:p.Asn124LysfsTer12 | |
| ENST00000510025.7:c.296dup MANE Select | ENSP00000424940.3:p.Asn99LysfsTer12 | |
| ENST00000643250.1:c.*177dup | ENSP00000494737.1:n.*177dup | |
| ENST00000644146.1:c.296dup | ENSP00000494808.1:p.Asn99LysfsTer12 | |
| ENST00000645832.1:c.*181dup | ENSP00000494316.1:n.*181dup | |
| ENST00000646058.1:c.296dup | ENSP00000493579.1:p.Asn99LysfsTer12 | |
| ENST00000646355.1:c.*302dup | ENSP00000493801.1:n.*302dup | |
| ENST00000646554.1:c.*177dup | ENSP00000494542.1:n.*177dup | |
| ENST00000646590.1:c.296dup | ENSP00000494892.1:p.Asn99LysfsTer12 | |
| ENST00000647335.1:c.*263dup | ENSP00000495180.1:n.*263dup | |
| ENST00000647342.1:c.*177dup | ENSP00000494992.1:n.*177dup | |
| ENST00000256216.10:c.296dup | ENSP00000256216.6:p.Asn99LysfsTer12 | |
| ENST00000414835.6:c.-116dup | ENSP00000411960.2:n.-116dup | |
| ENST00000442060.7:c.296dup | ENSP00000390208.3:p.Asn99LysfsTer12 | |
| ENST00000503168.5:n.285dup | ||
| ENST00000504811.5:c.371dup | ENSP00000420914.1:p.Asn124LysfsTer12 | |
| ENST00000507695.1:n.268dup | ||
| ENST00000510025.5:c.224dup | ENSP00000424940.1:p.Asn75LysfsTer12 | |
| ENST00000511186.5:n.427dup | ||
| ENST00000512841.5:n.344dup | ||
| ENST00000515235.6:n.356dup | ||
| ENST00000515320.5:c.242dup | ENSP00000424613.1:p.Asn81LysfsTer12 | |
| NM_000414.3:c.296dup | NP_000405.1:p.Asn99LysfsTer12 | |
| NM_001199291.2:c.371dup | NP_001186220.1:p.Asn124LysfsTer12 | |
| NM_001199292.1:c.242dup | NP_001186221.1:p.Asn81LysfsTer12 | |
| NM_001292027.1:c.224dup | NP_001278956.1:p.Asn75LysfsTer12 | |
| NM_001292028.1:c.-116dup | NP_001278957.1:n.-116dup | |
| NM_000414.4:c.296dup MANE Select | NP_000405.1:p.Asn99LysfsTer12 | |
| NM_001199291.3:c.371dup | NP_001186220.1:p.Asn124LysfsTer12 | |
| NM_001199292.2:c.242dup | NP_001186221.1:p.Asn81LysfsTer12 | |
| NM_001292027.2:c.224dup | NP_001278956.1:p.Asn75LysfsTer12 | |
| NM_001292028.2:c.-116dup | NP_001278957.1:n.-116dup | |
| NM_001374497.1:c.296dup | NP_001361426.1:p.Asn99LysfsTer12 | |
| NM_001374498.1:c.296dup | NP_001361427.1:p.Asn99LysfsTer12 | |
| NM_001374499.1:c.16dup | NP_001361428.1:p.Met6AsnfsTer? | |
| NM_001374500.1:c.-243dup | NP_001361429.1:n.-243dup | |
| NM_001374501.1:c.-116dup | NP_001361430.1:n.-116dup | |
| NM_001374502.1:c.-116dup | NP_001361431.1:n.-116dup | |
| NM_001374503.1:c.-116dup | NP_001361432.1:n.-116dup | |
| NR_164653.1:n.375dup | ||
| NR_164654.1:n.563dup |