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
dbSNP Id:
rs2063265605
gnomAD v3:
20-10253468-G-GGGATGAT
gnomAD v4:
20-10253468-G-GGGATGAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10253470_10253476dup , CM000682.2:g.10253470_10253476dup | GRCh38 |
| NC_000020.10:g.10234118_10234124dup , CM000682.1:g.10234118_10234124dup | GRCh37 |
| NC_000020.9:g.10182118_10182124dup | NCBI36 |
| NG_029626.1:g.39642_39648dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706269.1:c.-63-21959_-63-21953dup | ENSP00000516314.1:n.-63-21959_-63-21953du... | |
| ENST00000685131.1:c.-64+15444_-64+15450dup | ENSP00000508837.1:n.-64+15444_-64+15450du... | |
| ENST00000687785.1:c.-64+8577_-64+8583dup | ENSP00000510219.1:n.-64+8577_-64+8583dup | |
| ENST00000689077.1:n.393-21959_393-21953dup | ||
| ENST00000689757.1:c.-108-5887_-108-5881dup | ENSP00000509312.1:n.-108-5887_-108-5881du... | |
| ENST00000689858.1:c.-64+9436_-64+9442dup | ENSP00000510663.1:n.-64+9436_-64+9442dup | |
| ENST00000690099.1:n.393-21959_393-21953dup | ||
| ENST00000690766.1:n.393-21959_393-21953dup | ||
| ENST00000690812.1:c.-108-5887_-108-5881dup | ENSP00000509287.1:n.-108-5887_-108-5881du... | |
| ENST00000691161.1:c.-63-21959_-63-21953dup | ENSP00000510109.1:n.-63-21959_-63-21953du... | |
| ENST00000691353.1:c.-262-12009_-262-12003dup | ENSP00000509759.1:n.-262-12009_-262-12003... | |
| ENST00000691665.1:c.-64+19133_-64+19139dup | ENSP00000508541.1:n.-64+19133_-64+19139du... | |
| ENST00000692411.1:c.-148-7761_-148-7755dup | ENSP00000508939.1:n.-148-7761_-148-7755du... | |
| ENST00000693325.1:c.-63-21959_-63-21953dup | ENSP00000510558.1:n.-63-21959_-63-21953du... | |
| ENST00000693732.1:n.393-21959_393-21953dup | ||
| ENST00000254976.7:c.-63-21959_-63-21953dup MANE Select | ENSP00000254976.3:n.-63-21959_-63-21953du... | |
| ENST00000254976.6:c.-63-21959_-63-21953dup | ENSP00000254976.2:n.-63-21959_-63-21953du... | |
| ENST00000304886.6:c.-63-21959_-63-21953dup | ENSP00000307341.2:n.-63-21959_-63-21953du... | |
| ENST00000430336.1:c.-63-21959_-63-21953dup | ENSP00000400720.1:n.-63-21959_-63-21953du... | |
| NM_003081.3:c.-63-21959_-63-21953dup | NP_003072.2:n.-63-21959_-63-21953dup | |
| NM_130811.2:c.-63-21959_-63-21953dup | NP_570824.1:n.-63-21959_-63-21953dup | |
| XM_005260808.3:c.-63-21959_-63-21953dup | XP_005260865.1:n.-63-21959_-63-21953dup | |
| XM_005260810.3:c.-63-21959_-63-21953dup | XP_005260867.1:n.-63-21959_-63-21953dup | |
| NM_001322902.1:c.-63-21959_-63-21953dup | NP_001309831.1:n.-63-21959_-63-21953dup | |
| NM_001322903.1:c.-64+19133_-64+19139dup | NP_001309832.1:n.-64+19133_-64+19139dup | |
| NM_001322904.1:c.-63-21959_-63-21953dup | NP_001309833.1:n.-63-21959_-63-21953dup | |
| NM_001322905.1:c.-64+9436_-64+9442dup | NP_001309834.1:n.-64+9436_-64+9442dup | |
| NM_001322906.1:c.-64+15444_-64+15450dup | NP_001309835.1:n.-64+15444_-64+15450dup | |
| NM_001322907.1:c.-63-21959_-63-21953dup | NP_001309836.1:n.-63-21959_-63-21953dup | |
| NM_001322908.1:c.-64+8577_-64+8583dup | NP_001309837.1:n.-64+8577_-64+8583dup | |
| NM_001322909.1:c.-108-5887_-108-5881dup | NP_001309838.1:n.-108-5887_-108-5881dup | |
| NM_001322910.1:c.-63-21959_-63-21953dup | NP_001309839.1:n.-63-21959_-63-21953dup | |
| NM_003081.4:c.-63-21959_-63-21953dup | NP_003072.2:n.-63-21959_-63-21953dup | |
| NM_130811.3:c.-63-21959_-63-21953dup | NP_570824.1:n.-63-21959_-63-21953dup | |
| XM_005260808.5:c.-63-21959_-63-21953dup | XP_005260865.1:n.-63-21959_-63-21953dup | |
| XM_017028021.2:c.-64+9436_-64+9442dup | XP_016883510.1:n.-64+9436_-64+9442dup | |
| XM_017028022.1:c.-64+15444_-64+15450dup | XP_016883511.1:n.-64+15444_-64+15450dup | |
| NM_001322902.2:c.-63-21959_-63-21953dup | NP_001309831.1:n.-63-21959_-63-21953dup | |
| NM_001322903.2:c.-64+19133_-64+19139dup | NP_001309832.1:n.-64+19133_-64+19139dup | |
| NM_001322904.2:c.-63-21959_-63-21953dup | NP_001309833.1:n.-63-21959_-63-21953dup | |
| NM_001322905.2:c.-64+9436_-64+9442dup | NP_001309834.1:n.-64+9436_-64+9442dup | |
| NM_001322906.2:c.-64+15444_-64+15450dup | NP_001309835.1:n.-64+15444_-64+15450dup | |
| NM_001322907.2:c.-63-21959_-63-21953dup | NP_001309836.1:n.-63-21959_-63-21953dup | |
| NM_001322908.2:c.-64+8577_-64+8583dup | NP_001309837.1:n.-64+8577_-64+8583dup | |
| NM_001322909.2:c.-108-5887_-108-5881dup | NP_001309838.1:n.-108-5887_-108-5881dup | |
| NM_001322910.2:c.-63-21959_-63-21953dup | NP_001309839.1:n.-63-21959_-63-21953dup | |
| NM_003081.5:c.-63-21959_-63-21953dup | NP_003072.2:n.-63-21959_-63-21953dup | |
| NM_130811.4:c.-63-21959_-63-21953dup MANE Select | NP_570824.1:n.-63-21959_-63-21953dup |