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:
208610
ClinVar RCV Id:
RCV000190622
dbSNP Id:
rs797045105
gnomAD v3:
6-158150452-C-CCATG
gnomAD v4:
6-158150452-C-CCATG
MyVariant Identifiers:
chr6:g.158571484_158571485insCATG (hg19)
chr6:g.158150452_158150453insCATG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158150453_158150456dup , CM000668.2:g.158150453_158150456dup | GRCh38 |
| NC_000006.11:g.158571485_158571488dup , CM000668.1:g.158571485_158571488dup | GRCh37 |
| NC_000006.10:g.158491473_158491476dup | NCBI36 |
| NG_032889.1:g.22825_22828dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000607071.6:c.*96_*99dup | ENSP00000475855.1:n.*96_*99dup | |
| ENST00000642244.1:c.262_265dup | ENSP00000493554.1:p.Asp89AlafsTer2 | |
| ENST00000642903.1:c.262_265dup | ENSP00000493559.1:p.Gly89AlafsTer? | |
| ENST00000643093.1:n.312_315dup | ||
| ENST00000644972.1:c.262_265dup | ENSP00000496451.1:p.Gly89AlafsTer? | |
| ENST00000645077.1:c.*96_*99dup | ENSP00000496113.1:n.*96_*99dup | |
| ENST00000645172.1:c.*96_*99dup | ENSP00000495367.1:n.*96_*99dup | |
| ENST00000646190.1:n.1493_1496dup | ||
| ENST00000646208.1:c.92-3543_92-3540dup | ENSP00000493723.1:n.92-3543_92-3540dup | |
| ENST00000646410.1:c.223_226dup | ENSP00000494205.1:p.Asp76AlafsTer2 | |
| ENST00000646562.1:c.*96_*99dup | ENSP00000496087.1:n.*96_*99dup | |
| ENST00000647468.2:c.262_265dup MANE Select | ENSP00000496731.1:p.Gly89AlafsTer? | |
| ENST00000648111.1:c.236_239dup | ENSP00000497275.1:p.Trp80CysfsTer16 | |
| ENST00000367101.5:c.262_265dup | ENSP00000356068.1:p.Gly89AlafsTer? | |
| ENST00000367104.7:c.262_265dup | ENSP00000356071.3:p.Gly89AlafsTer? | |
| ENST00000606965.5:c.262_265dup | ENSP00000475808.1:p.Gly89AlafsTer? | |
| ENST00000607000.1:c.262_265dup | ENSP00000475788.1:p.Gly89AlafsTer? | |
| ENST00000607071.5:c.*96_*99dup | ENSP00000475855.1:n.*96_*99dup | |
| ENST00000607742.5:c.*96_*99dup | ENSP00000475523.1:n.*96_*99dup | |
| NM_032861.3:c.262_265dup | NP_116250.3:p.Gly89AlafsTer? | |
| NR_073096.1:n.404_407dup | ||
| XM_006715586.1:c.52_55dup | XP_006715649.1:p.Gly19AlafsTer? | |
| XM_011536196.1:c.241_244dup | XP_011534498.1:p.Gly82AlafsTer? | |
| XM_011536197.1:c.262_265dup | XP_011534499.1:p.Gly89AlafsTer? | |
| XM_011536198.1:c.52_55dup | XP_011534500.1:p.Gly19AlafsTer? | |
| XR_942606.1:n.263_266dup | ||
| XM_006715586.3:c.52_55dup | XP_006715649.1:p.Gly19AlafsTer? | |
| XM_011536196.3:c.241_244dup | XP_011534498.1:p.Gly82AlafsTer? | |
| XM_011536198.3:c.52_55dup | XP_011534500.1:p.Gly19AlafsTer? | |
| XM_024446573.1:c.262_265dup | XP_024302341.1:p.Gly89AlafsTer? | |
| XR_001743697.2:n.343_346dup | ||
| XR_942606.2:n.394_397dup | ||
| NM_032861.4:c.262_265dup MANE Select | NP_116250.3:p.Gly89AlafsTer? | |
| NR_073096.2:n.386_389dup |