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:
167096
ClinVar RCV Id:
RCV000153269
dbSNP Id:
rs786200976
MyVariant Identifiers:
chr7:g.114271663dup (hg19)
chr7:g.114271663dupA (hg19)
chr7:g.114631608dupA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.114631608dup , CM000669.2:g.114631608dup | GRCh38 |
| NC_000007.13:g.114271663dup , CM000669.1:g.114271663dup | GRCh37 |
| NC_000007.12:g.114058899dup | NCBI36 |
| NG_007491.2:g.550299dup | |
| NG_007491.3:g.550299dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403559.9:c.729dup | ENSP00000385069.4:p.Leu244ThrfsTer? | |
| ENST00000703612.1:c.669dup | ENSP00000515396.1:p.Leu224ThrfsTer? | |
| ENST00000703613.1:c.729dup | ENSP00000515397.1:p.Leu244ThrfsTer? | |
| ENST00000703614.1:c.678dup | ENSP00000515398.1:p.Leu227ThrfsTer? | |
| ENST00000703616.1:c.804dup | ENSP00000515400.1:p.Leu269ThrfsTer? | |
| ENST00000703617.1:c.402dup | ENSP00000515401.1:p.Leu135ThrfsTer? | |
| ENST00000350908.9:c.678dup MANE Select | ENSP00000265436.7:p.Leu227ThrfsTer? | |
| ENST00000393489.8:c.*472dup | ENSP00000377129.4:n.*472dup | |
| ENST00000638397.1:c.222dup | ENSP00000492698.1:p.Leu75ThrfsTer? | |
| ENST00000350908.8:c.678dup | ENSP00000265436.7:p.Leu227ThrfsTer? | |
| ENST00000360232.8:c.678dup | ENSP00000353367.4:p.Leu227ThrfsTer? | |
| ENST00000378237.7:c.678dup | ENSP00000367482.3:p.Leu227ThrfsTer? | |
| ENST00000390668.3:c.750dup | ENSP00000375084.3:p.Leu251ThrfsTer? | |
| ENST00000393489.7:c.402dup | ENSP00000377129.3:p.Leu135ThrfsTer? | |
| ENST00000393491.7:c.402dup | ENSP00000377130.3:p.Leu135ThrfsTer? | |
| ENST00000393494.6:c.678dup | ENSP00000377132.2:p.Leu227ThrfsTer? | |
| ENST00000393495.7:c.240dup | ENSP00000377133.3:p.Leu81ThrfsTer? | |
| ENST00000393498.6:c.615dup | ENSP00000377135.2:p.Leu206ThrfsTer? | |
| ENST00000403559.8:c.729dup | ENSP00000385069.4:p.Leu244ThrfsTer? | |
| ENST00000408937.7:c.753dup | ENSP00000386200.3:p.Leu252ThrfsTer? | |
| ENST00000412402.5:c.*598dup | ENSP00000405470.1:n.*598dup | |
| ENST00000441290.6:c.*523dup | ENSP00000416825.1:n.*523dup | |
| ENST00000634372.1:n.124dup | ||
| ENST00000634411.1:c.627dup | ENSP00000489135.1:p.Leu210ThrfsTer? | |
| ENST00000634623.1:c.618dup | ENSP00000488944.1:p.Leu207ThrfsTer? | |
| ENST00000635109.1:c.*475dup | ENSP00000489457.1:n.*475dup | |
| ENST00000635534.1:c.669dup | ENSP00000489229.1:p.Leu224ThrfsTer? | |
| ENST00000635563.1:c.218dup | ||
| ENST00000635638.1:c.681dup | ENSP00000489073.1:p.Leu228ThrfsTer? | |
| NM_001172766.2:c.675dup | NP_001166237.1:p.Leu226ThrfsTer? | |
| NM_001172767.2:c.753dup | NP_001166238.1:p.Leu252ThrfsTer? | |
| NM_014491.3:c.678dup | NP_055306.1:p.Leu227ThrfsTer? | |
| NM_148898.3:c.753dup | NP_683696.2:p.Leu252ThrfsTer? | |
| NM_148899.3:c.678dup | NP_683697.2:p.Leu227ThrfsTer? | |
| NM_148900.3:c.729dup | NP_683698.2:p.Leu244ThrfsTer? | |
| NR_033766.1:n.1265dup | ||
| NR_033767.1:n.1110dup | ||
| XM_011516706.1:c.822dup | XP_011515008.1:p.Leu275ThrfsTer? | |
| XM_017012801.2:c.753dup | XP_016868290.1:p.Leu252ThrfsTer? | |
| NM_014491.4:c.678dup MANE Select | NP_055306.1:p.Leu227ThrfsTer? | |
| NM_001172766.3:c.675dup | NP_001166237.1:p.Leu226ThrfsTer? | |
| NM_148898.4:c.753dup | NP_683696.2:p.Leu252ThrfsTer? | |
| NR_033766.2:n.1248dup | ||
| NR_033767.2:n.1292dup | ||
| NM_148900.4:c.729dup | NP_683698.2:p.Leu244ThrfsTer? |