Linked Data
ClinVar Variation Id:
10981
ClinVar RCV Id:
RCV000011728
dbSNP Id:
rs606231193
ExAC:
X:48759667 CAG / C
gnomAD v2:
X-48759667-CAG-C
gnomAD v3:
X-48902390-CAG-C
gnomAD v4:
X-48902390-CAG-C
COSMIC:
COSM1122219
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48902401_48902402del , CM000685.2:g.48902401_48902402del | GRCh38 |
| NC_000023.10:g.48759678_48759679del , CM000685.1:g.48759678_48759679del | GRCh37 |
| NC_000023.9:g.48644622_48644623del | NCBI36 |
| NG_015967.1:g.9484_9485del | |
| NG_015968.2:g.758_759del | |
| NG_034300.1:g.14567_14568del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218224.9:c.461_462del | ENSP00000218224.4:p.Glu154AlafsTer12 | |
| ENST00000376563.6:c.461_462del | ENSP00000365747.1:p.Glu154AlafsTer12 | |
| ENST00000396763.6:c.461_462del | ENSP00000379985.1:p.Glu154AlafsTer12 | |
| ENST00000443648.6:c.461_462del | ENSP00000414861.2:p.Glu154AlafsTer12 | |
| ENST00000456306.2:c.-32-331_-32-330del | ENSP00000393013.2:n.-32-331_-32-330del | |
| ENST00000472742.6:c.444+17_444+18del | ENSP00000509191.1:n.444+17_444+18del | |
| ENST00000473764.6:n.1076_1077del | ||
| ENST00000474671.6:n.1270_1271del | ||
| ENST00000477997.6:n.1196_1197del | ||
| ENST00000486150.6:n.1370_1371del | ||
| ENST00000692023.1:c.*668_*669del | ENSP00000509927.1:n.*668_*669del | |
| ENST00000447146.7:c.461_462del MANE Select | ENSP00000391759.2:p.Glu154AlafsTer12 | |
| ENST00000651767.1:c.461_462del | ENSP00000498362.1:p.Glu154AlafsTer12 | |
| ENST00000218224.8:c.461_462del | ENSP00000218224.4:p.Glu154AlafsTer12 | |
| ENST00000247140.8:c.293-331_293-330del | ENSP00000247140.4:n.293-331_293-330del | |
| ENST00000376563.5:c.461_462del | ENSP00000365747.1:p.Glu154AlafsTer12 | |
| ENST00000376566.8:c.293-331_293-330del | ENSP00000365750.4:n.293-331_293-330del | |
| ENST00000396763.5:c.461_462del | ENSP00000379985.1:p.Glu154AlafsTer12 | |
| ENST00000443648.5:c.461_462del | ENSP00000414861.1:p.Glu154AlafsTer12 | |
| ENST00000447146.6:c.461_462del | ENSP00000391759.2:p.Glu154AlafsTer12 | |
| ENST00000456306.1:c.259-331_259-330del | ||
| ENST00000463529.4:n.461_462del | ||
| ENST00000465859.2:n.475_476del | ||
| ENST00000470059.5:n.461_462del | ||
| ENST00000470062.5:n.549+17_549+18del | ||
| ENST00000472742.5:n.613+17_613+18del | ||
| ENST00000473764.5:n.1033_1034del | ||
| ENST00000474671.5:n.521_522del | ||
| ENST00000477997.5:n.542_543del | ||
| NM_001032381.1:c.461_462del | NP_001027553.1:p.Glu154AlafsTer12 | |
| NM_001032382.1:c.461_462del | NP_001027554.1:p.Glu154AlafsTer12 | |
| NM_001032383.1:c.461_462del | NP_001027555.1:p.Glu154AlafsTer12 | |
| NM_001032384.1:c.461_462del | NP_001027556.1:p.Glu154AlafsTer12 | |
| NM_001167989.1:c.461_462del | NP_001161461.1:p.Glu154AlafsTer12 | |
| NM_001167990.1:c.437_438del | NP_001161462.1:p.Glu146AlafsTer12 | |
| NM_001167992.1:c.202-41_202-40del | NP_001161464.1:n.202-41_202-40del | |
| NM_005710.2:c.461_462del | NP_005701.1:p.Glu154AlafsTer12 | |
| NM_144495.2:c.293-331_293-330del | NP_652766.1:n.293-331_293-330del | |
| XM_005272571.3:c.461_462del | XP_005272628.1:p.Glu154AlafsTer12 | |
| XM_005272572.3:c.293-331_293-330del | XP_005272629.1:n.293-331_293-330del | |
| XM_011543884.1:c.461_462del | XP_011542186.1:p.Glu154AlafsTer12 | |
| XM_005272572.4:c.293-331_293-330del | XP_005272629.1:n.293-331_293-330del | |
| XM_011543884.2:c.461_462del | XP_011542186.1:p.Glu154AlafsTer12 | |
| XM_017029207.1:c.461_462del | XP_016884696.1:p.Glu154AlafsTer12 | |
| NM_001032381.2:c.461_462del | NP_001027553.1:p.Glu154AlafsTer12 | |
| NM_001032382.2:c.461_462del MANE Select | NP_001027554.1:p.Glu154AlafsTer12 | |
| NM_001032383.2:c.461_462del | NP_001027555.1:p.Glu154AlafsTer12 | |
| NM_001167989.2:c.461_462del | NP_001161461.1:p.Glu154AlafsTer12 | |
| NM_001167990.2:c.437_438del | NP_001161462.1:p.Glu146AlafsTer12 | |
| NM_144495.3:c.293-331_293-330del | NP_652766.1:n.293-331_293-330del |