WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
ClinVar Variation Id:
571950
ClinVar RCV Id:
RCV000693218
dbSNP Id:
rs1430327271
gnomAD v2:
16-2121848-T-TGGCCCGGCGCCTGCA
gnomAD v4:
16-2071847-T-TGGCCCGGCGCCTGCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2071853_2071867dup , CM000678.2:g.2071853_2071867dup | GRCh38 |
| NC_000016.9:g.2121854_2121868dup , CM000678.1:g.2121854_2121868dup | GRCh37 |
| NC_000016.8:g.2061855_2061869dup | NCBI36 |
| NG_005895.1:g.27548_27562dup , LRG_487:g.27548_27562dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000568566.6:c.*563_*577dup | ENSP00000455997.2:n.*563_*577dup | |
| ENST00000642206.2:c.2061_2075dup | ENSP00000495146.2:p.Pro692_Ala693insAlaPr... | |
| ENST00000642365.2:c.2016_2030dup | ENSP00000495459.2:p.Pro677_Ala678insAlaPr... | |
| ENST00000644417.2:c.*1453_*1467dup | ENSP00000493912.2:n.*1453_*1467dup | |
| ENST00000646464.2:c.*1621_*1635dup | ENSP00000496610.2:n.*1621_*1635dup | |
| ENST00000219476.9:c.2016_2030dup MANE Select | ENSP00000219476.3:p.Pro677_Ala678insAlaPr... | |
| ENST00000350773.9:c.2016_2030dup | ENSP00000344383.4:p.Pro677_Ala678insAlaPr... | |
| ENST00000401874.7:c.2016_2030dup | ENSP00000384468.2:p.Pro677_Ala678insAlaPr... | |
| ENST00000563346.2:n.194_208dup | ||
| ENST00000568454.6:c.2049_2063dup | ENSP00000454487.1:p.Pro688_Ala689insAlaPr... | |
| ENST00000642365.1:c.673_687dup | ||
| ENST00000642561.1:c.2016_2030dup | ENSP00000495099.1:p.Pro677_Ala678insAlaPr... | |
| ENST00000642797.1:c.2016_2030dup | ENSP00000493846.1:p.Pro677_Ala678insAlaPr... | |
| ENST00000642936.1:c.2016_2030dup | ENSP00000494514.1:p.Pro677_Ala678insAlaPr... | |
| ENST00000643088.1:c.2016_2030dup | ENSP00000494747.1:p.Pro677_Ala678insAlaPr... | |
| ENST00000643298.1:c.*1518_*1532dup | ENSP00000494393.1:n.*1518_*1532dup | |
| ENST00000643946.1:c.2016_2030dup | ENSP00000495927.1:p.Pro677_Ala678insAlaPr... | |
| ENST00000644043.1:c.2016_2030dup | ENSP00000496262.1:p.Pro677_Ala678insAlaPr... | |
| ENST00000644329.1:c.2016_2030dup | ENSP00000496611.1:p.Pro677_Ala678insAlaPr... | |
| ENST00000644335.1:c.2016_2030dup | ENSP00000496317.1:p.Pro677_Ala678insAlaPr... | |
| ENST00000644399.1:c.2009_2023dup | ||
| ENST00000644847.1:n.1008_1022dup | ||
| ENST00000645024.1:n.298_312dup | ||
| ENST00000645552.1:n.296_310dup | ||
| ENST00000646388.1:c.2016_2030dup | ENSP00000495921.1:p.Pro677_Ala678insAlaPr... | |
| ENST00000646464.1:c.69_83dup | ENSP00000496610.1:p.Pro28_Ala29insAlaProA... | |
| ENST00000646634.1:n.1029_1043dup | ||
| ENST00000219476.7:c.2016_2030dup | ENSP00000219476.3:p.Pro677_Ala678insAlaPr... | |
| ENST00000350773.8:c.2016_2030dup | ENSP00000344383.4:p.Pro677_Ala678insAlaPr... | |
| ENST00000382538.10:c.1869_1883dup | ENSP00000371978.6:p.Pro628_Ala629insAlaPr... | |
| ENST00000401874.6:c.2016_2030dup | ENSP00000384468.2:p.Pro677_Ala678insAlaPr... | |
| ENST00000439117.6:c.*1315_*1329dup | ENSP00000406980.2:n.*1315_*1329dup | |
| ENST00000439673.6:c.1905_1919dup | ENSP00000399232.2:p.Pro640_Ala641insAlaPr... | |
| ENST00000488675.5:n.523_537dup | ||
| ENST00000563346.1:n.85_99dup | ||
| ENST00000568454.5:c.2049_2063dup | ENSP00000454487.1:p.Pro688_Ala689insAlaPr... | |
| NM_000548.3:c.2016_2030dup , LRG_487t1:c.2016_2030dup | NP_000539.2:p.Pro677_Ala678insAlaProAlaGl... | |
| NM_001077183.1:c.2016_2030dup | NP_001070651.1:p.Pro677_Ala678insAlaProAl... | |
| NM_001114382.1:c.2016_2030dup | NP_001107854.1:p.Pro677_Ala678insAlaProAl... | |
| XM_005255529.3:c.2016_2030dup | XP_005255586.2:p.Pro677_Ala678insAlaProAl... | |
| XM_005255531.3:c.2016_2030dup | XP_005255588.2:p.Pro677_Ala678insAlaProAl... | |
| XM_011522636.1:c.2016_2030dup | XP_011520938.1:p.Pro677_Ala678insAlaProAl... | |
| XM_011522637.1:c.2016_2030dup | XP_011520939.1:p.Pro677_Ala678insAlaProAl... | |
| XM_011522638.1:c.1905_1919dup | XP_011520940.1:p.Pro640_Ala641insAlaProAl... | |
| XM_011522639.1:c.2016_2030dup | XP_011520941.1:p.Pro677_Ala678insAlaProAl... | |
| XM_011522640.1:c.2016_2030dup | XP_011520942.1:p.Pro677_Ala678insAlaProAl... | |
| XM_011522641.1:c.1905_1919dup | XP_011520943.1:p.Pro640_Ala641insAlaProAl... | |
| NM_000548.4:c.2016_2030dup | NP_000539.2:p.Pro677_Ala678insAlaProAlaGl... | |
| NM_001077183.2:c.2016_2030dup | NP_001070651.1:p.Pro677_Ala678insAlaProAl... | |
| NM_001114382.2:c.2016_2030dup | NP_001107854.1:p.Pro677_Ala678insAlaProAl... | |
| NM_001318827.1:c.1905_1919dup | NP_001305756.1:p.Pro640_Ala641insAlaProAl... | |
| NM_001318829.1:c.1869_1883dup | NP_001305758.1:p.Pro628_Ala629insAlaProAl... | |
| NM_001318831.1:c.1416_1430dup | NP_001305760.1:p.Pro477_Ala478insAlaProAl... | |
| NM_001318832.1:c.2049_2063dup | NP_001305761.1:p.Pro688_Ala689insAlaProAl... | |
| NM_001363528.1:c.2016_2030dup | NP_001350457.1:p.Pro677_Ala678insAlaProAl... | |
| NM_021055.2:c.2016_2030dup | NP_066399.2:p.Pro677_Ala678insAlaProAlaGl... | |
| XM_005255531.4:c.2016_2030dup | XP_005255588.2:p.Pro677_Ala678insAlaProAl... | |
| XM_011522636.2:c.2016_2030dup | XP_011520938.1:p.Pro677_Ala678insAlaProAl... | |
| XM_011522637.2:c.2016_2030dup | XP_011520939.1:p.Pro677_Ala678insAlaProAl... | |
| XM_011522638.2:c.2178_2192dup | XP_011520940.2:p.Pro731_Ala732insAlaProAl... | |
| XM_011522639.2:c.2016_2030dup | XP_011520941.1:p.Pro677_Ala678insAlaProAl... | |
| XM_011522640.2:c.2016_2030dup | XP_011520942.1:p.Pro677_Ala678insAlaProAl... | |
| XM_017023615.1:c.2016_2030dup | XP_016879104.1:p.Pro677_Ala678insAlaProAl... | |
| XM_017023616.1:c.2016_2030dup | XP_016879105.1:p.Pro677_Ala678insAlaProAl... | |
| XM_017023617.1:c.2178_2192dup | XP_016879106.1:p.Pro731_Ala732insAlaProAl... | |
| XM_017023618.1:c.672_686dup | XP_016879107.1:p.Pro229_Ala230insAlaProAl... | |
| XM_024450413.1:c.2016_2030dup | XP_024306181.1:p.Pro677_Ala678insAlaProAl... | |
| NM_000548.5:c.2016_2030dup MANE Select | NP_000539.2:p.Pro677_Ala678insAlaProAlaGl... | |
| NM_001370404.1:c.2016_2030dup | NP_001357333.1:p.Pro677_Ala678insAlaProAl... | |
| NM_001370405.1:c.2016_2030dup | NP_001357334.1:p.Pro677_Ala678insAlaProAl... | |
| NM_001077183.3:c.2016_2030dup | NP_001070651.1:p.Pro677_Ala678insAlaProAl... | |
| NM_001114382.3:c.2016_2030dup | NP_001107854.1:p.Pro677_Ala678insAlaProAl... | |
| NM_001318827.2:c.1905_1919dup | NP_001305756.1:p.Pro640_Ala641insAlaProAl... | |
| NM_001318829.2:c.1869_1883dup | NP_001305758.1:p.Pro628_Ala629insAlaProAl... | |
| NM_001318831.2:c.1416_1430dup | NP_001305760.1:p.Pro477_Ala478insAlaProAl... | |
| NM_001318832.2:c.2049_2063dup | NP_001305761.1:p.Pro688_Ala689insAlaProAl... | |
| NM_001363528.2:c.2016_2030dup | NP_001350457.1:p.Pro677_Ala678insAlaProAl... | |
| NM_021055.3:c.2016_2030dup | NP_066399.2:p.Pro677_Ala678insAlaProAlaGl... |