Linked Data
ClinVar Variation Id:
422848
ClinVar RCV Id:
RCV000479677
dbSNP Id:
rs606231196
MyVariant Identifiers:
chrX:g.48760068_48760071dupCCCC (hg19)
chrX:g.48902791_48902794dupCCCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48902791_48902794dup , CM000685.2:g.48902791_48902794dup | GRCh38 |
| NC_000023.10:g.48760068_48760071dup , CM000685.1:g.48760068_48760071dup | GRCh37 |
| NC_000023.9:g.48645012_48645015dup | NCBI36 |
| NG_015967.1:g.9874_9877dup | |
| NG_015968.2:g.358_361dup | |
| NG_034300.1:g.14167_14170dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218224.9:c.637_640dup | ENSP00000218224.4:p.Arg214ProfsTer14 | |
| ENST00000376563.6:c.637_640dup | ENSP00000365747.1:p.Arg214ProfsTer14 | |
| ENST00000396763.6:c.637_640dup | ENSP00000379985.1:p.Arg214ProfsTer14 | |
| ENST00000443648.6:c.637_640dup | ENSP00000414861.2:p.Arg214ProfsTer14 | |
| ENST00000456306.2:c.28_31dup | ENSP00000393013.2:p.Arg11ProfsTer14 | |
| ENST00000472742.6:c.*54_*57dup | ENSP00000509191.1:n.*54_*57dup | |
| ENST00000473764.6:n.1466_1469dup | ||
| ENST00000474671.6:n.1660_1663dup | ||
| ENST00000477997.6:n.1586_1589dup | ||
| ENST00000486150.6:n.1760_1763dup | ||
| ENST00000692023.1:c.*1058_*1061dup | ENSP00000509927.1:n.*1058_*1061dup | |
| ENST00000447146.7:c.637_640dup MANE Select | ENSP00000391759.2:p.Arg214ProfsTer14 | |
| ENST00000651767.1:c.637_640dup | ENSP00000498362.1:p.Arg214ProfsTer14 | |
| ENST00000218224.8:c.637_640dup | ENSP00000218224.4:p.Arg214ProfsTer14 | |
| ENST00000247140.8:c.352_355dup | ENSP00000247140.4:p.Arg119ProfsTer14 | |
| ENST00000376563.5:c.637_640dup | ENSP00000365747.1:p.Arg214ProfsTer14 | |
| ENST00000376566.8:c.352_355dup | ENSP00000365750.4:p.Arg119ProfsTer14 | |
| ENST00000396763.5:c.637_640dup | ENSP00000379985.1:p.Arg214ProfsTer14 | |
| ENST00000447146.6:c.637_640dup | ENSP00000391759.2:p.Arg214ProfsTer14 | |
| ENST00000456306.1:c.318_321dup | ||
| ENST00000463529.4:n.851_854dup | ||
| ENST00000465859.2:n.651_654dup | ||
| ENST00000470059.5:n.851_854dup | ||
| ENST00000470062.5:n.609_612dup | ||
| ENST00000473764.5:n.1209_1212dup | ||
| ENST00000474671.5:n.697_700dup | ||
| ENST00000477997.5:n.718_721dup | ||
| NM_001032381.1:c.637_640dup | NP_001027553.1:p.Arg214ProfsTer14 | |
| NM_001032382.1:c.637_640dup | NP_001027554.1:p.Arg214ProfsTer14 | |
| NM_001032383.1:c.637_640dup | NP_001027555.1:p.Arg214ProfsTer14 | |
| NM_001032384.1:c.637_640dup | NP_001027556.1:p.Arg214ProfsTer14 | |
| NM_001167989.1:c.634_637dup | NP_001161461.1:p.Arg213ProfsTer14 | |
| NM_001167990.1:c.613_616dup | NP_001161462.1:p.Arg206ProfsTer14 | |
| NM_001167992.1:c.337_340dup | NP_001161464.1:p.Arg114ProfsTer14 | |
| NM_005710.2:c.637_640dup | NP_005701.1:p.Arg214ProfsTer14 | |
| NM_144495.2:c.352_355dup | NP_652766.1:p.Arg119ProfsTer14 | |
| XM_005272571.3:c.634_637dup | XP_005272628.1:p.Arg213ProfsTer14 | |
| XM_005272572.3:c.352_355dup | XP_005272629.1:p.Arg119ProfsTer14 | |
| XM_011543884.1:c.637_640dup | XP_011542186.1:p.Arg214ProfsTer14 | |
| XM_005272572.4:c.352_355dup | XP_005272629.1:p.Arg119ProfsTer14 | |
| XM_011543884.2:c.637_640dup | XP_011542186.1:p.Arg214ProfsTer14 | |
| XM_017029207.1:c.634_637dup | XP_016884696.1:p.Arg213ProfsTer14 | |
| NM_001032381.2:c.637_640dup | NP_001027553.1:p.Arg214ProfsTer14 | |
| NM_001032382.2:c.637_640dup MANE Select | NP_001027554.1:p.Arg214ProfsTer14 | |
| NM_001032383.2:c.637_640dup | NP_001027555.1:p.Arg214ProfsTer14 | |
| NM_001167989.2:c.634_637dup | NP_001161461.1:p.Arg213ProfsTer14 | |
| NM_001167990.2:c.613_616dup | NP_001161462.1:p.Arg206ProfsTer14 | |
| NM_144495.3:c.352_355dup | NP_652766.1:p.Arg119ProfsTer14 |