Linked Data
ClinVar Variation Id:
2566481
dbSNP Id:
rs1345292099
gnomAD v2:
19-1226571-GGCCCCCAACCCT-G
gnomAD v3:
19-1226572-GGCCCCCAACCCT-G
gnomAD v4:
19-1226572-GGCCCCCAACCCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226577_1226588del , CM000681.2:g.1226577_1226588del | GRCh38 |
| NC_000019.9:g.1226576_1226587del , CM000681.1:g.1226576_1226587del | GRCh37 |
| NC_000019.8:g.1177576_1177587del | NCBI36 |
| NG_007460.2:g.42171_42182del , LRG_319:g.42171_42182del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2833_*2844del | ENSP00000490268.2:n.*2833_*2844del | |
| ENST00000585748.3:c.860_871del | ENSP00000477641.2:p.Pro287_Ala290del | |
| ENST00000585851.2:c.1058_1069del | ENSP00000467912.2:p.Pro353_Ala356del | |
| ENST00000326873.12:c.1232_1243del MANE Select | ENSP00000324856.6:p.Pro411_Ala414del | |
| ENST00000326873.11:c.1232_1243del | ENSP00000324856.6:p.Pro411_Ala414del | |
| ENST00000585465.2:n.2965_2976del | ||
| ENST00000586243.5:c.1231_1242del | ENSP00000467240.2:p.Pro411_Pro414del | |
| ENST00000589152.5:n.1930_1941del | ||
| NM_000455.4:c.1232_1243del , LRG_319t1:c.1232_1243del | NP_000446.1:p.Pro411_Ala414del | |
| XM_005259617.1:c.1227_1238del | XP_005259674.1:p.Gln410_Pro413del | |
| XM_011528209.1:c.1005_1016del | XP_011526511.1:p.Gln336_Pro339del | |
| XM_005259617.3:c.1227_1238del | XP_005259674.1:p.Gln410_Pro413del | |
| XM_011528209.2:c.1005_1016del | XP_011526511.1:p.Gln336_Pro339del | |
| XR_001753738.2:n.2038_2049del | ||
| XR_001753740.2:n.2008_2019del | ||
| NM_000455.5:c.1232_1243del MANE Select | NP_000446.1:p.Pro411_Ala414del |