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:
13846
ClinVar RCV Id:
RCV000014858
dbSNP Id:
rs121913685
COSMIC:
COSM1248
MyVariant Identifiers:
chr4:g.55593610_55593615del (hg19)
chr4:g.55593609_55593614del (hg19)
chr4:g.54727444_54727449del (hg38)
PubMed:
PMID:9438854
CIViC:
CA123504
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54727444_54727449del , CM000666.2:g.54727444_54727449del | GRCh38 |
| NC_000004.11:g.55593610_55593615del , CM000666.1:g.55593610_55593615del | GRCh37 |
| NC_000004.10:g.55288367_55288372del | NCBI36 |
| NG_007456.1:g.74450_74455del , LRG_307:g.74450_74455del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000412167.7:c.1667_1672del | ENSP00000390987.3:p.Val556_Val557del | |
| ENST00000685269.1:n.1754_1759del | ||
| ENST00000686011.1:c.1664_1669del | ENSP00000509704.1:p.Val555_Val556del | |
| ENST00000687109.1:c.1679_1684del | ENSP00000509371.1:p.Val560_Val561del | |
| ENST00000687208.1:n.2091_2096del | ||
| ENST00000687246.1:c.1664_1669del | ENSP00000509114.1:p.Val555_Val556del | |
| ENST00000687265.1:n.1834_1839del | ||
| ENST00000687295.1:c.1664_1669del | ENSP00000509450.1:p.Val555_Val556del | |
| ENST00000689832.1:c.1679_1684del | ENSP00000509084.1:p.Val560_Val561del | |
| ENST00000689994.1:c.1166_1171del | ENSP00000509156.1:p.Val389_Val390del | |
| ENST00000690543.1:c.1667_1672del | ENSP00000508831.1:p.Val556_Val557del | |
| ENST00000690917.1:n.1894_1899del | ||
| ENST00000691361.1:n.586_591del | ||
| ENST00000692783.1:c.1676_1681del | ENSP00000508733.1:p.Val559_Val560del | |
| ENST00000692991.1:n.1773_1778del | ||
| ENST00000288135.6:c.1676_1681del MANE Select | ENSP00000288135.6:p.Val559_Val560del | |
| ENST00000288135.5:c.1676_1681del | ENSP00000288135.5:p.Val559_Val560del | |
| ENST00000412167.6:c.1664_1669del | ENSP00000390987.2:p.Val555_Val556del | |
| NM_000222.2:c.1676_1681del , LRG_307t1:c.1676_1681del | NP_000213.1:p.Val559_Val560del | |
| NM_001093772.1:c.1664_1669del | NP_001087241.1:p.Val555_Val556del | |
| XM_005265740.1:c.1679_1684del | XP_005265797.1:p.Val560_Val561del | |
| XM_005265741.1:c.1679_1684del | XP_005265798.1:p.Val560_Val561del | |
| XM_005265742.1:c.1667_1672del | XP_005265799.1:p.Val556_Val557del | |
| XM_005265742.3:c.1667_1672del | XP_005265799.1:p.Val556_Val557del | |
| XM_017008178.1:c.1676_1681del | XP_016863667.1:p.Val559_Val560del | |
| XM_017008179.1:c.1667_1672del | XP_016863668.1:p.Val556_Val557del | |
| XM_017008180.1:c.1664_1669del | XP_016863669.1:p.Val555_Val556del | |
| NM_000222.3:c.1676_1681del MANE Select | NP_000213.1:p.Val559_Val560del | |
| NM_001093772.2:c.1664_1669del | NP_001087241.1:p.Val555_Val556del | |
| NM_001385284.1:c.1679_1684del | NP_001372213.1:p.Val560_Val561del | |
| NM_001385285.1:c.1676_1681del | NP_001372214.1:p.Val559_Val560del | |
| NM_001385286.1:c.1664_1669del | NP_001372215.1:p.Val555_Val556del | |
| NM_001385288.1:c.1667_1672del | NP_001372217.1:p.Val556_Val557del | |
| NM_001385290.1:c.1679_1684del | NP_001372219.1:p.Val560_Val561del | |
| NM_001385292.1:c.1667_1672del | NP_001372221.1:p.Val556_Val557del |