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:
221292
ClinVar RCV Id:
RCV003325305
dbSNP Id:
rs869025283
gnomAD v2:
6-105192055-GAGA-G
gnomAD v3:
6-104744180-GAGA-G
gnomAD v4:
6-104744180-GAGA-G
PubMed:
PMID:26437029
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.104744185_104744187del , CM000668.2:g.104744185_104744187del | GRCh38 |
| NC_000006.11:g.105192060_105192062del , CM000668.1:g.105192060_105192062del | GRCh37 |
| NC_000006.10:g.105298753_105298755del | NCBI36 |
| NG_046782.1:g.120737_120739del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262903.9:c.2490_2492del MANE Select | ENSP00000262903.4:p.Leu831del | |
| ENST00000262903.8:c.2490_2492del | ENSP00000262903.4:p.Leu831del | |
| ENST00000369125.6:c.1845_1847del | ENSP00000358121.2:p.Leu616del | |
| ENST00000369127.8:n.3511_3513del | ||
| ENST00000416605.6:c.*2152_*2154del | ENSP00000392425.2:n.*2152_*2154del | |
| ENST00000517424.1:c.1282_1284del | ||
| ENST00000517995.5:n.1004_1006del | ||
| ENST00000518402.5:c.661_663del | ||
| ENST00000518503.5:c.758-10_758-8del | ||
| NM_020771.3:c.2490_2492del | NP_065822.2:p.Leu831del | |
| NR_104424.1:n.2966_2968del | ||
| XM_006715528.2:c.2388_2390del | XP_006715591.1:p.Leu797del | |
| XM_006715529.2:c.2358_2360del | XP_006715592.1:p.Leu787del | |
| XM_006715530.2:c.1986_1988del | XP_006715593.1:p.Leu663del | |
| XM_011535989.1:c.2004_2006del | XP_011534291.1:p.Leu669del | |
| XM_011535990.1:c.1986_1988del | XP_011534292.1:p.Leu663del | |
| XM_011535991.1:c.1908_1910del | XP_011534293.1:p.Leu637del | |
| XR_942529.1:n.2767_2769del | ||
| NM_001321080.1:c.2358_2360del | NP_001308009.1:p.Leu787del | |
| NM_001321083.1:c.2388_2390del | NP_001308012.1:p.Leu797del | |
| NM_001321084.1:c.1986_1988del | NP_001308013.1:p.Leu663del | |
| NM_001350554.1:c.2256_2258del | NP_001337483.1:p.Leu753del | |
| NM_001350555.1:c.2199_2201del | NP_001337484.1:p.Leu734del | |
| NM_001350556.1:c.2004_2006del | NP_001337485.1:p.Leu669del | |
| NM_001350557.1:c.1986_1988del | NP_001337486.1:p.Leu663del | |
| NM_001350558.1:c.1986_1988del | NP_001337487.1:p.Leu663del | |
| NM_001350559.1:c.1908_1910del | NP_001337488.1:p.Leu637del | |
| NM_001350560.1:c.1707_1709del | NP_001337489.1:p.Leu570del | |
| NR_146787.1:n.2595_2597del | ||
| NR_146788.1:n.2765_2767del | ||
| NR_146789.1:n.2754_2756del | ||
| NR_146790.1:n.2771_2773del | ||
| NR_146791.1:n.2872_2874del | ||
| NR_146792.1:n.2848_2850del | ||
| XM_017011114.2:c.2256_2258del | XP_016866603.1:p.Leu753del | |
| XM_017011119.2:c.1986_1988del | XP_016866608.1:p.Leu663del | |
| XM_017011122.1:c.1908_1910del | XP_016866611.1:p.Leu637del | |
| XR_001743536.1:n.2767_2769del | ||
| XR_001743538.1:n.2859_2861del | ||
| XR_942529.2:n.2767_2769del | ||
| NM_020771.4:c.2490_2492del MANE Select | NP_065822.2:p.Leu831del | |
| NM_001321080.2:c.2358_2360del | NP_001308009.1:p.Leu787del | |
| NM_001321083.2:c.2388_2390del | NP_001308012.1:p.Leu797del | |
| NM_001321084.2:c.1986_1988del | NP_001308013.1:p.Leu663del | |
| NM_001350554.2:c.2256_2258del | NP_001337483.1:p.Leu753del | |
| NM_001350555.2:c.2199_2201del | NP_001337484.1:p.Leu734del | |
| NM_001350556.2:c.2004_2006del | NP_001337485.1:p.Leu669del | |
| NM_001350557.2:c.1986_1988del | NP_001337486.1:p.Leu663del | |
| NM_001350558.2:c.1986_1988del | NP_001337487.1:p.Leu663del | |
| NM_001350559.2:c.1908_1910del | NP_001337488.1:p.Leu637del | |
| NM_001350560.2:c.1707_1709del | NP_001337489.1:p.Leu570del | |
| NR_104424.2:n.2966_2968del | ||
| NR_146787.2:n.2595_2597del | ||
| NR_146788.2:n.2765_2767del | ||
| NR_146789.2:n.2754_2756del | ||
| NR_146790.2:n.2771_2773del | ||
| NR_146791.2:n.2872_2874del | ||
| NR_146792.2:n.2848_2850del |