Linked Data
ClinVar Variation Id:
10982
dbSNP Id:
rs606231196
ExAC:
X:48760065 G / GC
gnomAD v2:
X-48760065-G-GC
gnomAD v4:
X-48902788-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48902794dup , CM000685.2:g.48902794dup | GRCh38 |
| NC_000023.10:g.48760071dup , CM000685.1:g.48760071dup | GRCh37 |
| NC_000023.9:g.48645015dup | NCBI36 |
| NG_015967.1:g.9877dup | |
| NG_015968.2:g.361dup | |
| NG_034300.1:g.14170dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218224.9:c.640dup | ENSP00000218224.4:p.Arg214ProfsTer13 | |
| ENST00000376563.6:c.640dup | ENSP00000365747.1:p.Arg214ProfsTer13 | |
| ENST00000396763.6:c.640dup | ENSP00000379985.1:p.Arg214ProfsTer13 | |
| ENST00000443648.6:c.640dup | ENSP00000414861.2:p.Arg214ProfsTer13 | |
| ENST00000456306.2:c.31dup | ENSP00000393013.2:p.Arg11ProfsTer13 | |
| ENST00000472742.6:c.*57dup | ENSP00000509191.1:n.*57dup | |
| ENST00000473764.6:n.1469dup | ||
| ENST00000474671.6:n.1663dup | ||
| ENST00000477997.6:n.1589dup | ||
| ENST00000486150.6:n.1763dup | ||
| ENST00000692023.1:c.*1061dup | ENSP00000509927.1:n.*1061dup | |
| ENST00000447146.7:c.640dup MANE Select | ENSP00000391759.2:p.Arg214ProfsTer13 | |
| ENST00000651767.1:c.640dup | ENSP00000498362.1:p.Arg214ProfsTer13 | |
| ENST00000218224.8:c.640dup | ENSP00000218224.4:p.Arg214ProfsTer13 | |
| ENST00000247140.8:c.355dup | ENSP00000247140.4:p.Arg119ProfsTer13 | |
| ENST00000376563.5:c.640dup | ENSP00000365747.1:p.Arg214ProfsTer13 | |
| ENST00000376566.8:c.355dup | ENSP00000365750.4:p.Arg119ProfsTer13 | |
| ENST00000396763.5:c.640dup | ENSP00000379985.1:p.Arg214ProfsTer13 | |
| ENST00000447146.6:c.640dup | ENSP00000391759.2:p.Arg214ProfsTer13 | |
| ENST00000456306.1:c.321dup | ||
| ENST00000463529.4:n.854dup | ||
| ENST00000465859.2:n.654dup | ||
| ENST00000470059.5:n.854dup | ||
| ENST00000470062.5:n.612dup | ||
| ENST00000473764.5:n.1212dup | ||
| ENST00000474671.5:n.700dup | ||
| ENST00000477997.5:n.721dup | ||
| NM_001032381.1:c.640dup | NP_001027553.1:p.Arg214ProfsTer13 | |
| NM_001032382.1:c.640dup | NP_001027554.1:p.Arg214ProfsTer13 | |
| NM_001032383.1:c.640dup | NP_001027555.1:p.Arg214ProfsTer13 | |
| NM_001032384.1:c.640dup | NP_001027556.1:p.Arg214ProfsTer13 | |
| NM_001167989.1:c.637dup | NP_001161461.1:p.Arg213ProfsTer13 | |
| NM_001167990.1:c.616dup | NP_001161462.1:p.Arg206ProfsTer13 | |
| NM_001167992.1:c.340dup | NP_001161464.1:p.Arg114ProfsTer13 | |
| NM_005710.2:c.640dup | NP_005701.1:p.Arg214ProfsTer13 | |
| NM_144495.2:c.355dup | NP_652766.1:p.Arg119ProfsTer13 | |
| XM_005272571.3:c.637dup | XP_005272628.1:p.Arg213ProfsTer13 | |
| XM_005272572.3:c.355dup | XP_005272629.1:p.Arg119ProfsTer13 | |
| XM_011543884.1:c.640dup | XP_011542186.1:p.Arg214ProfsTer13 | |
| XM_005272572.4:c.355dup | XP_005272629.1:p.Arg119ProfsTer13 | |
| XM_011543884.2:c.640dup | XP_011542186.1:p.Arg214ProfsTer13 | |
| XM_017029207.1:c.637dup | XP_016884696.1:p.Arg213ProfsTer13 | |
| NM_001032381.2:c.640dup | NP_001027553.1:p.Arg214ProfsTer13 | |
| NM_001032382.2:c.640dup MANE Select | NP_001027554.1:p.Arg214ProfsTer13 | |
| NM_001032383.2:c.640dup | NP_001027555.1:p.Arg214ProfsTer13 | |
| NM_001167989.2:c.637dup | NP_001161461.1:p.Arg213ProfsTer13 | |
| NM_001167990.2:c.616dup | NP_001161462.1:p.Arg206ProfsTer13 | |
| NM_144495.3:c.355dup | NP_652766.1:p.Arg119ProfsTer13 |