Linked Data
dbSNP Id:
rs768406702
ExAC:
16:84065426 C / CGTGCCT
gnomAD v2:
16-84065426-C-CGTGCCT
gnomAD v4:
16-84031821-C-CGTGCCT
MyVariant Identifiers:
chr16:g.84065426_84065427insGTGCCT (hg19)
chr16:g.84031821_84031822insGTGCCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84031822_84031827dup , CM000678.2:g.84031822_84031827dup | GRCh38 |
| NC_000016.9:g.84065427_84065432dup , CM000678.1:g.84065427_84065432dup | GRCh37 |
| NC_000016.8:g.82622928_82622933dup | NCBI36 |
| NG_034136.1:g.15331_15336dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299709.8:c.632+40_632+45dup MANE Select | ENSP00000299709.3:n.632+40_632+45dup | |
| ENST00000299709.7:c.632+40_632+45dup | ENSP00000299709.3:n.632+40_632+45dup | |
| ENST00000568178.1:c.632+40_632+45dup | ENSP00000457737.1:n.632+40_632+45dup | |
| NM_001080442.2:c.632+40_632+45dup | NP_001073911.1:n.632+40_632+45dup | |
| XM_011522872.1:c.632+40_632+45dup | XP_011521174.1:n.632+40_632+45dup | |
| XM_017022946.1:c.632+40_632+45dup | XP_016878435.1:n.632+40_632+45dup | |
| NM_001080442.3:c.632+40_632+45dup MANE Select | NP_001073911.1:n.632+40_632+45dup |