Linked Data
ClinVar Variation Id:
186186
dbSNP Id:
rs1205684749
ExAC:
16:68772316 T / TGAG
gnomAD v2:
16-68772316-T-TGAG
gnomAD v3:
16-68738413-T-TGAG
gnomAD v4:
16-68738413-T-TGAG
MyVariant Identifiers:
chr16:g.68772318_68772320dupAGG (hg19)
chr16:g.68772316_68772317insGAG (hg19)
chr16:g.68738415_68738417dupAGG (hg38)
chr16:g.68738413_68738414insGAG (hg38)
PubMed:
PMID:22752307
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68738415_68738417dup , CM000678.2:g.68738415_68738417dup | GRCh38 |
| NC_000016.9:g.68772318_68772320dup , CM000678.1:g.68772318_68772320dup | GRCh37 |
| NC_000016.8:g.67329819_67329821dup | NCBI36 |
| NG_008021.1:g.6124_6126dup , LRG_301:g.6124_6126dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.163+4_163+6dup MANE Select | ENSP00000261769.4:n.163+4_163+6dup | |
| ENST00000261769.9:c.163+4_163+6dup | ENSP00000261769.4:n.163+4_163+6dup | |
| ENST00000422392.6:c.163+4_163+6dup | ENSP00000414946.2:n.163+4_163+6dup | |
| ENST00000566510.5:c.163+4_163+6dup | ENSP00000458139.1:n.163+4_163+6dup | |
| ENST00000566612.5:c.163+4_163+6dup | ENSP00000454782.1:n.163+4_163+6dup | |
| ENST00000611625.4:c.163+4_163+6dup | ENSP00000481063.1:n.163+4_163+6dup | |
| ENST00000612417.4:c.163+4_163+6dup | ENSP00000478360.1:n.163+4_163+6dup | |
| ENST00000621016.4:c.163+4_163+6dup | ENSP00000480664.1:n.163+4_163+6dup | |
| NM_004360.3:c.163+4_163+6dup , LRG_301t1:c.163+4_163+6dup | NP_004351.1:n.163+4_163+6dup | |
| NM_001317184.1:c.163+4_163+6dup | NP_001304113.1:n.163+4_163+6dup | |
| NM_001317185.1:c.-1453+4_-1453+6dup | NP_001304114.1:n.-1453+4_-1453+6dup | |
| NM_001317186.1:c.-1657+4_-1657+6dup | NP_001304115.1:n.-1657+4_-1657+6dup | |
| NM_004360.4:c.163+4_163+6dup | NP_004351.1:n.163+4_163+6dup | |
| NM_004360.5:c.163+4_163+6dup MANE Select | NP_004351.1:n.163+4_163+6dup | |
| NM_001317184.2:c.163+4_163+6dup | NP_001304113.1:n.163+4_163+6dup | |
| NM_001317185.2:c.-1453+4_-1453+6dup | NP_001304114.1:n.-1453+4_-1453+6dup | |
| NM_001317186.2:c.-1657+4_-1657+6dup | NP_001304115.1:n.-1657+4_-1657+6dup |