Linked Data
ClinVar Variation Id:
208640
dbSNP Id:
rs797045116
ExAC:
14:45628392 C / CA
gnomAD v2:
14-45628392-C-CA
gnomAD v3:
14-45159189-C-CA
gnomAD v4:
14-45159189-C-CA
MyVariant Identifiers:
chr14:g.45628393dupA (hg19)
chr14:g.45628392_45628393insA (hg19)
chr14:g.45159190dupA (hg38)
chr14:g.45159189_45159190insA (hg38)
PubMed:
PMID:26296701
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.45159190dup , CM000676.2:g.45159190dup | GRCh38 |
| NC_000014.8:g.45628393dup , CM000676.1:g.45628393dup | GRCh37 |
| NC_000014.7:g.44698143dup | NCBI36 |
| NG_007417.1:g.28258dup , LRG_502:g.28258dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000556036.6:c.1491dup | ENSP00000450596.1:p.Gln498ThrfsTer7 | |
| ENST00000556250.6:c.1491dup | ENSP00000452033.2:p.Gln498ThrfsTer7 | |
| ENST00000696641.1:c.1332dup | ENSP00000512774.1:p.Gln445ThrfsTer7 | |
| ENST00000696642.1:c.*302dup | ENSP00000512775.1:n.*302dup | |
| ENST00000696643.1:c.1491dup | ENSP00000512776.1:p.Gln498ThrfsTer7 | |
| ENST00000696646.1:c.*302dup | ENSP00000512777.1:n.*302dup | |
| ENST00000696647.1:c.1491dup | ENSP00000512778.1:p.Gln498ThrfsTer7 | |
| ENST00000696648.1:c.1491dup | ENSP00000512779.1:p.Gln498ThrfsTer7 | |
| ENST00000696649.1:c.1491dup | ENSP00000512780.1:p.Gln498ThrfsTer7 | |
| ENST00000696650.1:n.1439dup | ||
| ENST00000696658.1:n.2041dup | ||
| ENST00000696662.1:c.1413dup | ENSP00000512788.1:p.Gln472ThrfsTer7 | |
| ENST00000696663.1:c.308dup | ||
| ENST00000696664.1:c.308dup | ||
| ENST00000696675.1:c.1491dup | ENSP00000512799.1:p.Gln498ThrfsTer7 | |
| ENST00000696680.1:c.1359dup | ENSP00000512803.1:p.Gln454ThrfsTer7 | |
| ENST00000696681.1:c.*302dup | ENSP00000512804.1:n.*302dup | |
| ENST00000696682.1:c.1491dup | ENSP00000512805.1:p.Gln498ThrfsTer7 | |
| ENST00000696683.1:c.308dup | ||
| ENST00000696684.1:c.308dup | ||
| ENST00000696685.1:c.308dup | ||
| ENST00000267430.10:c.1491dup MANE Select | ENSP00000267430.5:p.Gln498ThrfsTer7 | |
| ENST00000267430.9:c.1491dup | ENSP00000267430.5:p.Gln498ThrfsTer7 | |
| ENST00000542564.6:c.1413dup | ENSP00000442493.2:p.Gln472ThrfsTer7 | |
| ENST00000556036.5:c.1491dup | ENSP00000450596.1:p.Gln498ThrfsTer7 | |
| ENST00000556250.5:c.246dup | ENSP00000452033.1:p.Gln83ThrfsTer7 | |
| NM_001308133.1:c.1413dup | NP_001295062.1:p.Gln472ThrfsTer7 | |
| NM_001308134.1:c.1491dup | NP_001295063.1:p.Gln498ThrfsTer7 | |
| NM_020937.2:c.1491dup , LRG_502t1:c.1491dup | NP_065988.1:p.Gln498ThrfsTer7 | |
| NM_020937.3:c.1491dup | NP_065988.1:p.Gln498ThrfsTer7 | |
| XM_011537034.1:c.1491dup | XP_011535336.1:p.Gln498ThrfsTer7 | |
| XM_011537035.1:c.1413dup | XP_011535337.1:p.Gln472ThrfsTer7 | |
| XM_011537036.1:c.1491dup | XP_011535338.1:p.Gln498ThrfsTer7 | |
| XM_011537034.2:c.1491dup | XP_011535336.1:p.Gln498ThrfsTer7 | |
| XM_011537035.3:c.1413dup | XP_011535337.1:p.Gln472ThrfsTer7 | |
| XM_017021523.1:c.1491dup | XP_016877012.1:p.Gln498ThrfsTer7 | |
| XM_017021524.2:c.528dup | XP_016877013.1:p.Gln177ThrfsTer7 | |
| XM_017021525.2:c.306dup | XP_016877014.1:p.Gln103ThrfsTer7 | |
| XM_017021526.2:c.306dup | XP_016877015.1:p.Gln103ThrfsTer7 | |
| XM_017021527.1:c.306dup | XP_016877016.1:p.Gln103ThrfsTer7 | |
| XR_001750470.1:n.1583dup | ||
| XR_001750471.2:n.1583dup | ||
| XR_001750472.1:n.1583dup | ||
| NM_020937.4:c.1491dup MANE Select | NP_065988.1:p.Gln498ThrfsTer7 | |
| NM_001308133.2:c.1413dup | NP_001295062.1:p.Gln472ThrfsTer7 | |
| NM_001308134.2:c.1491dup | NP_001295063.1:p.Gln498ThrfsTer7 |