Linked Data
dbSNP Id:
rs138775524
MyVariant Identifiers:
chr16:g.3827567_3827568insGGGGGGGG (hg19)
chr16:g.3777566_3777567insGGGGGGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3777567_3777568insGGGGGGGG , CM000678.2:g.3777567_3777568insGGGGGGGG | GRCh38 |
| NC_000016.9:g.3827568_3827569insGGGGGGGG , CM000678.1:g.3827568_3827569insGGGGGGGG | GRCh37 |
| NC_000016.8:g.3767569_3767570insGGGGGGGG | NCBI36 |
| NG_009873.1:g.107554_107555insCCCCCCCC | |
| NG_009873.2:g.108147_108148insCCCCCCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.2158+46_2158+47insCCCCCCCC MANE Select | ENSP00000262367.5:n.2158+46_2158+47insCCCCCCCC | |
| ENST00000262367.9:c.2158+46_2158+47insCCCCCCCC | ENSP00000262367.5:n.2158+46_2158+47insCCCCCCCC | |
| ENST00000382070.7:c.2044+46_2044+47insCCCCCCCC | ENSP00000371502.3:n.2044+46_2044+47insCCCCCCCC | |
| ENST00000570939.2:c.763+46_763+47insCCCCCCCC | ENSP00000461002.2:n.763+46_763+47insCCCCCCCC | |
| ENST00000571826.5:c.207+46_207+47insCCCCCCCC | ||
| ENST00000572134.1:c.426+444_426+445insCCCCCCCC | ||
| NM_001079846.1:c.2044+46_2044+47insCCCCCCCC | NP_001073315.1:n.2044+46_2044+47insCCCCCCCC | |
| NM_004380.2:c.2158+46_2158+47insCCCCCCCC | NP_004371.2:n.2158+46_2158+47insCCCCCCCC | |
| XM_005255124.3:c.2113+444_2113+445insCCCCCCCC | XP_005255181.1:n.2113+444_2113+445insCCCCCCCC | |
| XM_005255125.3:c.2158+46_2158+47insCCCCCCCC | XP_005255182.1:n.2158+46_2158+47insCCCCCCCC | |
| XM_006720848.2:c.2158+46_2158+47insCCCCCCCC | XP_006720911.1:n.2158+46_2158+47insCCCCCCCC | |
| XM_011522380.1:c.2104+46_2104+47insCCCCCCCC | XP_011520682.1:n.2104+46_2104+47insCCCCCCCC | |
| XM_011522381.1:c.1405+46_1405+47insCCCCCCCC | XP_011520683.1:n.1405+46_1405+47insCCCCCCCC | |
| XM_011522382.1:c.2158+46_2158+47insCCCCCCCC | XP_011520684.1:n.2158+46_2158+47insCCCCCCCC | |
| XM_005255124.4:c.2113+444_2113+445insCCCCCCCC | XP_005255181.1:n.2113+444_2113+445insCCCCCCCC | |
| XM_005255125.4:c.2158+46_2158+47insCCCCCCCC | XP_005255182.1:n.2158+46_2158+47insCCCCCCCC | |
| XM_006720848.3:c.2158+46_2158+47insCCCCCCCC | XP_006720911.1:n.2158+46_2158+47insCCCCCCCC | |
| XM_011522381.2:c.1405+46_1405+47insCCCCCCCC | XP_011520683.1:n.1405+46_1405+47insCCCCCCCC | |
| XM_011522382.3:c.2158+46_2158+47insCCCCCCCC | XP_011520684.1:n.2158+46_2158+47insCCCCCCCC | |
| XM_017022944.1:c.2158+46_2158+47insCCCCCCCC | XP_016878433.1:n.2158+46_2158+47insCCCCCCCC | |
| NM_004380.3:c.2158+46_2158+47insCCCCCCCC MANE Select | NP_004371.2:n.2158+46_2158+47insCCCCCCCC |