UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
25429
ClinVar RCV Id:
RCV000022387
dbSNP Id:
rs386134225
MyVariant Identifiers:
chr5:g.131729473_131729476dupACAC (hg19)
chr5:g.131729472_131729473insACAC (hg19)
chr5:g.132393781_132393784dupACAC (hg38)
chr5:g.132393780_132393781insACAC (hg38)
PubMed:
PMID:17126586
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132393781_132393784dup , CM000667.2:g.132393781_132393784dup | GRCh38 |
| NC_000005.9:g.131729473_131729476dup , CM000667.1:g.131729473_131729476dup | GRCh37 |
| NC_000005.8:g.131757372_131757375dup | NCBI36 |
| NG_008982.1:g.29073_29076dup | |
| NG_008982.2:g.29078_29081dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1292-404_1292-401dup | ENSP00000388838.2:n.1292-404_1292-401dup | |
| ENST00000435065.7:c.1628_1631dup | ENSP00000402760.2:p.Ile545HisfsTer3 | |
| ENST00000448810.6:c.*408_*411dup | ENSP00000401860.2:n.*408_*411dup | |
| ENST00000685543.1:n.1697_1700dup | ||
| ENST00000686757.1:c.*720_*723dup | ENSP00000510721.1:n.*720_*723dup | |
| ENST00000686868.1:n.548_551dup | ||
| ENST00000687740.1:n.4241_4244dup | ||
| ENST00000688151.1:n.2866_2869dup | ||
| ENST00000689271.1:c.1403_1406dup | ENSP00000510797.1:p.Ile470HisfsTer3 | |
| ENST00000690900.1:c.*720_*723dup | ENSP00000510703.1:n.*720_*723dup | |
| ENST00000692212.1:n.4696_4699dup | ||
| ENST00000692355.1:c.809_812dup | ||
| ENST00000692413.1:c.1538_1541dup | ENSP00000509374.1:p.Ile515HisfsTer3 | |
| ENST00000692825.1:c.1624_1627dup | ENSP00000509447.1:n.1624_1627dup | |
| ENST00000693308.1:c.1604_1607dup | ENSP00000509770.1:p.Ile537HisfsTer3 | |
| ENST00000693763.1:n.2716_2719dup | ||
| ENST00000245407.8:c.1556_1559dup MANE Select | ENSP00000245407.3:p.Ile521HisfsTer3 | |
| ENST00000245407.7:c.1556_1559dup | ENSP00000245407.3:p.Ile521HisfsTer3 | |
| ENST00000435065.6:c.1628_1631dup | ENSP00000402760.2:p.Ile545HisfsTer3 | |
| ENST00000447841.5:c.400_403dup | ||
| ENST00000448810.5:c.818_821dup | ||
| ENST00000461013.5:n.8978_8981dup | ||
| ENST00000475308.1:n.2234_2237dup | ||
| NM_001308122.1:c.1628_1631dup | NP_001295051.1:p.Ile545HisfsTer3 | |
| NM_003060.3:c.1556_1559dup | NP_003051.1:p.Ile521HisfsTer3 | |
| XM_011543590.1:c.938_941dup | XP_011541892.1:p.Ile315HisfsTer3 | |
| XR_948290.1:n.1682_1685dup | ||
| XM_011543590.2:c.938_941dup | XP_011541892.1:p.Ile315HisfsTer3 | |
| XM_017009778.2:c.1028_1031dup | XP_016865267.1:p.Ile345HisfsTer3 | |
| XR_001742215.1:n.1811_1814dup | ||
| XR_001742216.1:n.1830_1833dup | ||
| XR_427718.2:n.1916_1919dup | ||
| XR_948290.2:n.1682_1685dup | ||
| XR_948291.2:n.1910_1913dup | ||
| NM_003060.4:c.1556_1559dup MANE Select | NP_003051.1:p.Ile521HisfsTer3 | |
| NM_001308122.2:c.1628_1631dup | NP_001295051.1:p.Ile545HisfsTer3 |