Linked Data
ClinVar Variation Id:
141849
dbSNP Id:
rs587782056
ExAC:
19:1207152 CAAG / C
gnomAD v2:
19-1207152-CAAG-C
gnomAD v3:
19-1207153-CAAG-C
gnomAD v4:
19-1207153-CAAG-C
COSMIC:
COSM6196607
MyVariant Identifiers:
chr19:g.1207162_1207164del (hg19)
chr19:g.1207153_1207155del (hg19)
chr19:g.1207163_1207165del (hg38)
chr19:g.1207154_1207156del (hg38)
PubMed:
PMID:25299233
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1207163_1207165del , CM000681.2:g.1207163_1207165del | GRCh38 |
| NC_000019.9:g.1207162_1207164del , CM000681.1:g.1207162_1207164del | GRCh37 |
| NC_000019.8:g.1158162_1158164del | NCBI36 |
| NG_007460.2:g.22757_22759del , LRG_319:g.22757_22759del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.250_252del | ENSP00000490268.2:p.Lys84del | |
| ENST00000585748.3:c.-82-11254_-82-11252del | ENSP00000477641.2:n.-82-11254_-82-11252del | |
| ENST00000585851.2:c.250_252del | ENSP00000467912.2:p.Lys84del | |
| ENST00000326873.12:c.250_252del MANE Select | ENSP00000324856.6:p.Lys84del | |
| ENST00000652231.1:c.250_252del | ENSP00000498804.1:p.Lys84del | |
| ENST00000326873.11:c.250_252del | ENSP00000324856.6:p.Lys84del | |
| ENST00000585748.2:c.-82-11254_-82-11252del | ENSP00000477641.1:n.-82-11254_-82-11252del | |
| ENST00000585851.1:c.250_252del | ENSP00000467912.1:p.Lys84del | |
| ENST00000586243.5:c.250_252del | ENSP00000467240.2:p.Lys84del | |
| ENST00000586358.5:n.73_75del | ||
| ENST00000589152.5:n.340_342del | ||
| ENST00000593219.5:c.250_252del | ENSP00000466610.1:p.Lys84del | |
| NM_000455.4:c.250_252del , LRG_319t1:c.250_252del | NP_000446.1:p.Lys84del | |
| XM_005259617.1:c.250_252del | XP_005259674.1:p.Lys84del | |
| XM_005259618.3:c.250_252del | XP_005259675.1:p.Lys84del | |
| XM_011528209.1:c.-104_-102del | XP_011526511.1:n.-104_-102del | |
| XR_936204.1:n.875_877del | ||
| XM_005259617.3:c.250_252del | XP_005259674.1:p.Lys84del | |
| XM_011528209.2:c.-104_-102del | XP_011526511.1:n.-104_-102del | |
| XR_001753738.2:n.875_877del | ||
| XR_001753739.1:n.875_877del | ||
| XR_001753740.2:n.875_877del | ||
| NM_000455.5:c.250_252del MANE Select | NP_000446.1:p.Lys84del |