Linked Data
dbSNP Id:
rs1329945104
gnomAD v3:
17-27783628-C-CACTG
gnomAD v4:
17-27783628-C-CACTG
MyVariant Identifiers:
chr17:g.26110654_26110655insACTG (hg19)
chr17:g.27783628_27783629insACTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.27783629_27783632dup , CM000679.2:g.27783629_27783632dup | GRCh38 |
| NC_000017.10:g.26110655_26110658dup , CM000679.1:g.26110655_26110658dup | GRCh37 |
| NC_000017.9:g.23134782_23134785dup | NCBI36 |
| NG_011470.1:g.21898_21901dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697337.1:c.319-526_319-523dup | ENSP00000513259.1:n.319-526_319-523dup | |
| ENST00000697338.1:c.316-526_316-523dup | ENSP00000513260.1:n.316-526_316-523dup | |
| ENST00000697339.1:c.315+5177_315+5180dup | ENSP00000513261.1:n.315+5177_315+5180dup | |
| ENST00000697340.1:c.465-526_465-523dup | ENSP00000513262.1:n.465-526_465-523dup | |
| ENST00000697341.1:n.438-526_438-523dup | ||
| ENST00000313735.11:c.468-526_468-523dup MANE Select | ENSP00000327251.6:n.468-526_468-523dup | |
| ENST00000646938.1:c.465-526_465-523dup | ENSP00000494870.1:n.465-526_465-523dup | |
| ENST00000313735.10:c.468-526_468-523dup | ENSP00000327251.6:n.468-526_468-523dup | |
| ENST00000621962.1:c.468-526_468-523dup | ENSP00000482291.1:n.468-526_468-523dup | |
| NM_000625.4:c.468-526_468-523dup MANE Select | NP_000616.3:n.468-526_468-523dup | |
| XM_011524859.1:c.468-526_468-523dup | XP_011523161.1:n.468-526_468-523dup | |
| XM_011524860.1:c.465-526_465-523dup | XP_011523162.1:n.465-526_465-523dup | |
| XM_011524861.1:c.468-526_468-523dup | XP_011523163.1:n.468-526_468-523dup | |
| XM_011524862.1:c.-199-526_-199-523dup | XP_011523164.1:n.-199-526_-199-523dup |