Linked Data
ClinVar Variation Id:
201411
ClinVar RCV Id:
RCV000182901
RCV001177598
RCV000781826
RCV002467648
RCV002517809
RCV002372118
RCV003227704
dbSNP Id:
rs794728838
ExAC:
1:237947676 GAGA / G
gnomAD v2:
1-237947676-GAGA-G
gnomAD v3:
1-237784376-GAGA-G
gnomAD v4:
1-237784376-GAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237784379_237784381del , CM000663.2:g.237784379_237784381del | GRCh38 |
| NC_000001.10:g.237947679_237947681del , CM000663.1:g.237947679_237947681del | GRCh37 |
| NC_000001.9:g.236014302_236014304del | NCBI36 |
| NG_008799.2:g.746978_746980del | |
| NG_008799.3:g.747196_747198del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.*3759_*3761del | ENSP00000499659.2:n.*3759_*3761del | |
| ENST00000659194.3:c.12655_12657del | ENSP00000499653.3:p.Lys4219del | |
| ENST00000660292.2:c.12688_12690del | ENSP00000499787.2:p.Lys4230del | |
| ENST00000659194.2:c.4844_4846del | ||
| ENST00000366574.7:c.12667_12669del MANE Select | ENSP00000355533.2:p.Lys4223del | |
| ENST00000659194.1:c.4844_4846del | ||
| ENST00000660292.1:c.2720_2722del | ||
| ENST00000360064.7:c.12619_12621del | ENSP00000353174.7:p.Lys4207del | |
| ENST00000366574.6:c.12667_12669del | ENSP00000355533.2:p.Lys4223del | |
| ENST00000609119.1:n.3862_3864del | ||
| NM_001035.2:c.12667_12669del | NP_001026.2:p.Lys4223del | |
| XM_006711802.2:c.12721_12723del | XP_006711865.1:p.Lys4241del | |
| XM_006711803.2:c.12718_12720del | XP_006711866.1:p.Lys4240del | |
| XM_006711804.2:c.12697_12699del | XP_006711867.1:p.Lys4233del | |
| XM_006711805.2:c.12691_12693del | XP_006711868.1:p.Lys4231del | |
| XM_006711806.2:c.12685_12687del | XP_006711869.1:p.Lys4229del | |
| XM_006711807.2:c.12661_12663del | XP_006711870.1:p.Lys4221del | |
| XM_006711808.2:c.12484_12486del | XP_006711871.1:p.Lys4162del | |
| XM_006711810.2:c.12628_12630del | XP_006711873.1:p.Lys4210del | |
| XM_006711802.3:c.12721_12723del | XP_006711865.1:p.Lys4241del | |
| XM_006711803.3:c.12718_12720del | XP_006711866.1:p.Lys4240del | |
| XM_006711804.3:c.12697_12699del | XP_006711867.1:p.Lys4233del | |
| XM_006711805.3:c.12691_12693del | XP_006711868.1:p.Lys4231del | |
| XM_006711806.3:c.12685_12687del | XP_006711869.1:p.Lys4229del | |
| XM_006711807.3:c.12661_12663del | XP_006711870.1:p.Lys4221del | |
| XM_006711808.3:c.12484_12486del | XP_006711871.1:p.Lys4162del | |
| XM_006711810.3:c.12628_12630del | XP_006711873.1:p.Lys4210del | |
| XM_017002028.1:c.12700_12702del | XP_016857517.1:p.Lys4234del | |
| NM_001035.3:c.12667_12669del MANE Select | NP_001026.2:p.Lys4223del |