Linked Data
dbSNP Id:
rs1064793834
gnomAD v4:
16-68737357-A-AGCCCG
MyVariant Identifiers:
chr16:g.68771260_68771261insGCCCG (hg19)
chr16:g.68737357_68737358insGCCCG (hg38)
ERepo:
CA16620223/MONDO:0007648/007
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68737363_68737367dup , CM000678.2:g.68737363_68737367dup | GRCh38 |
| NC_000016.9:g.68771266_68771270dup , CM000678.1:g.68771266_68771270dup | GRCh37 |
| NC_000016.8:g.67328767_67328771dup | NCBI36 |
| NG_008021.1:g.5072_5076dup , LRG_301:g.5072_5076dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.-53_-49dup MANE Select | ENSP00000261769.4:n.-53_-49dup | |
| ENST00000261769.9:c.-53_-49dup | ENSP00000261769.4:n.-53_-49dup | |
| ENST00000422392.6:c.-53_-49dup | ENSP00000414946.2:n.-53_-49dup | |
| ENST00000566510.5:c.-53_-49dup | ENSP00000458139.1:n.-53_-49dup | |
| ENST00000566612.5:c.-53_-49dup | ENSP00000454782.1:n.-53_-49dup | |
| ENST00000611625.4:c.-53_-49dup | ENSP00000481063.1:n.-53_-49dup | |
| ENST00000612417.4:c.-53_-49dup | ENSP00000478360.1:n.-53_-49dup | |
| ENST00000621016.4:c.-53_-49dup | ENSP00000480664.1:n.-53_-49dup | |
| NM_004360.3:c.-53_-49dup , LRG_301t1:c.-53_-49dup | NP_004351.1:n.-53_-49dup | |
| NM_001317184.1:c.-53_-49dup | NP_001304113.1:n.-53_-49dup | |
| NM_001317185.1:c.-1668_-1664dup | NP_001304114.1:n.-1668_-1664dup | |
| NM_001317186.1:c.-1872_-1868dup | NP_001304115.1:n.-1872_-1868dup | |
| NM_004360.4:c.-53_-49dup | NP_004351.1:n.-53_-49dup | |
| NM_004360.5:c.-53_-49dup MANE Select | NP_004351.1:n.-53_-49dup | |
| NM_001317184.2:c.-53_-49dup | NP_001304113.1:n.-53_-49dup | |
| NM_001317185.2:c.-1668_-1664dup | NP_001304114.1:n.-1668_-1664dup | |
| NM_001317186.2:c.-1872_-1868dup | NP_001304115.1:n.-1872_-1868dup |