Linked Data
ClinVar Variation Id:
188933
dbSNP Id:
rs199475565
ExAC:
12:103306618 GAGA / G
gnomAD v2:
12-103306618-GAGA-G
gnomAD v4:
12-102912840-GAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102912844_102912846del , CM000674.2:g.102912844_102912846del | GRCh38 |
| NC_000012.11:g.103306622_103306624del , CM000674.1:g.103306622_103306624del | GRCh37 |
| NC_000012.10:g.101830752_101830754del | NCBI36 |
| NG_008690.1:g.9760_9762del | |
| NG_008690.2:g.50568_50570del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.116_118del MANE Select | ENSP00000448059.1:p.Phe39del | |
| ENST00000307000.7:c.101_103del | ENSP00000303500.2:p.Phe34del | |
| ENST00000546844.1:c.116_118del | ENSP00000446658.1:p.Phe39del | |
| ENST00000548677.2:n.203_205del | ||
| ENST00000548928.1:n.38_40del | ||
| ENST00000549111.5:n.212_214del | ||
| ENST00000550978.6:c.100_102del | ||
| ENST00000551337.5:c.116_118del | ENSP00000447620.1:p.Phe39del | |
| ENST00000551988.5:n.205_207del | ||
| ENST00000553106.5:c.116_118del | ENSP00000448059.1:p.Phe39del | |
| ENST00000635500.1:n.84_86del | ||
| NM_000277.1:c.116_118del | NP_000268.1:p.Phe39del | |
| XM_011538422.1:c.116_118del | XP_011536724.1:p.Phe39del | |
| NM_000277.2:c.116_118del | NP_000268.1:p.Phe39del | |
| NM_001354304.1:c.116_118del | NP_001341233.1:p.Phe39del | |
| XM_017019370.2:c.116_118del | XP_016874859.1:p.Phe39del | |
| NM_000277.3:c.116_118del MANE Select | NP_000268.1:p.Phe39del | |
| NM_001354304.2:c.116_118del | NP_001341233.1:p.Phe39del |