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:
142839
dbSNP Id:
rs587782757
ExAC:
16:68867180 CCTT / C
gnomAD v2:
16-68867180-CCTT-C
gnomAD v3:
16-68833277-CCTT-C
gnomAD v4:
16-68833277-CCTT-C
MyVariant Identifiers:
chr16:g.68867187_68867189del (hg19)
chr16:g.68867181_68867183del (hg19)
chr16:g.68833284_68833286del (hg38)
chr16:g.68833278_68833280del (hg38)
PubMed:
PMID:23197654
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68833284_68833286del , CM000678.2:g.68833284_68833286del | GRCh38 |
| NC_000016.9:g.68867187_68867189del , CM000678.1:g.68867187_68867189del | GRCh37 |
| NC_000016.8:g.67424688_67424690del | NCBI36 |
| NG_008021.1:g.100993_100995del , LRG_301:g.100993_100995del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2440-6_2440-4del MANE Select | ENSP00000261769.4:n.2440-6_2440-4del | |
| ENST00000261769.9:c.2440-6_2440-4del | ENSP00000261769.4:n.2440-6_2440-4del | |
| ENST00000422392.6:c.2257-6_2257-4del | ENSP00000414946.2:n.2257-6_2257-4del | |
| ENST00000562118.1:n.658-6_658-4del | ||
| ENST00000562836.5:n.2511-6_2511-4del | ||
| ENST00000566510.5:c.*1106-6_*1106-4del | ENSP00000458139.1:n.*1106-6_*1106-4del | |
| ENST00000566612.5:c.*680-6_*680-4del | ENSP00000454782.1:n.*680-6_*680-4del | |
| ENST00000611625.4:c.2503-6_2503-4del | ENSP00000481063.1:n.2503-6_2503-4del | |
| ENST00000612417.4:c.1854-907_1854-905del | ENSP00000478360.1:n.1854-907_1854-905del | |
| ENST00000621016.4:c.1866-919_1866-917del | ENSP00000480664.1:n.1866-919_1866-917del | |
| NM_004360.3:c.2440-6_2440-4del , LRG_301t1:c.2440-6_2440-4del | NP_004351.1:n.2440-6_2440-4del | |
| XM_011523488.1:c.1705-6_1705-4del | XP_011521790.1:n.1705-6_1705-4del | |
| XM_011523489.1:c.1705-6_1705-4del | XP_011521791.1:n.1705-6_1705-4del | |
| NM_001317184.1:c.2257-6_2257-4del | NP_001304113.1:n.2257-6_2257-4del | |
| NM_001317185.1:c.892-6_892-4del | NP_001304114.1:n.892-6_892-4del | |
| NM_001317186.1:c.475-6_475-4del | NP_001304115.1:n.475-6_475-4del | |
| NM_004360.4:c.2440-6_2440-4del | NP_004351.1:n.2440-6_2440-4del | |
| NM_004360.5:c.2440-6_2440-4del MANE Select | NP_004351.1:n.2440-6_2440-4del | |
| NM_001317184.2:c.2257-6_2257-4del | NP_001304113.1:n.2257-6_2257-4del | |
| NM_001317185.2:c.892-6_892-4del | NP_001304114.1:n.892-6_892-4del | |
| NM_001317186.2:c.475-6_475-4del | NP_001304115.1:n.475-6_475-4del |