Linked Data
ClinVar Variation Id:
102632
dbSNP Id:
rs62642094
ExAC:
12:103288654 GAGA / G
gnomAD v2:
12-103288654-GAGA-G
gnomAD v3:
12-102894876-GAGA-G
gnomAD v4:
12-102894876-GAGA-G
ERepo:
CA229490/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894879_102894881del , CM000674.2:g.102894879_102894881del | GRCh38 |
| NC_000012.11:g.103288657_103288659del , CM000674.1:g.103288657_103288659del | GRCh37 |
| NC_000012.10:g.101812787_101812789del | NCBI36 |
| NG_008690.1:g.27724_27726del | |
| NG_008690.2:g.68532_68534del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.208_210del MANE Select | ENSP00000448059.1:p.Ser70del | |
| ENST00000307000.7:c.193_195del | ENSP00000303500.2:p.Ser65del | |
| ENST00000546844.1:c.208_210del | ENSP00000446658.1:p.Ser70del | |
| ENST00000548677.2:n.295_297del | ||
| ENST00000548928.1:n.130_132del | ||
| ENST00000549111.5:n.304_306del | ||
| ENST00000550978.6:c.192_194del | ||
| ENST00000551337.5:c.208_210del | ENSP00000447620.1:p.Ser70del | |
| ENST00000551988.5:n.297_299del | ||
| ENST00000553106.5:c.208_210del | ENSP00000448059.1:p.Ser70del | |
| ENST00000635500.1:n.176_178del | ||
| NM_000277.1:c.208_210del | NP_000268.1:p.Ser70del | |
| XM_011538422.1:c.208_210del | XP_011536724.1:p.Ser70del | |
| NM_000277.2:c.208_210del | NP_000268.1:p.Ser70del | |
| NM_001354304.1:c.208_210del | NP_001341233.1:p.Ser70del | |
| XM_017019370.2:c.208_210del | XP_016874859.1:p.Ser70del | |
| NM_000277.3:c.208_210del MANE Select | NP_000268.1:p.Ser70del | |
| NM_001354304.2:c.208_210del | NP_001341233.1:p.Ser70del |