Linked Data
dbSNP Id:
rs2080767028
gnomAD v3:
19-1219452-C-CGGGGGCT
gnomAD v4:
19-1219452-C-CGGGGGCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1219458_1219459insTGGGGGC , CM000681.2:g.1219458_1219459insTGGGGGC | GRCh38 |
| NC_000019.9:g.1219457_1219458insTGGGGGC , CM000681.1:g.1219457_1219458insTGGGGGC | GRCh37 |
| NC_000019.8:g.1170457_1170458insTGGGGGC | NCBI36 |
| NG_007460.2:g.35052_35053insTGGGGGC , LRG_319:g.35052_35053insTGGGGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.464+45_464+46insTGGGGGC | ENSP00000490268.2:n.464+45_464+46insTGGGGGC | |
| ENST00000585748.3:c.92+45_92+46insTGGGGGC | ENSP00000477641.2:n.92+45_92+46insTGGGGGC | |
| ENST00000585851.2:c.291-915_291-914insTGGGGGC | ENSP00000467912.2:n.291-915_291-914insTGGGGGC | |
| ENST00000326873.12:c.464+45_464+46insTGGGGGC MANE Select | ENSP00000324856.6:n.464+45_464+46insTGGGGGC | |
| ENST00000652231.1:c.464+45_464+46insTGGGGGC | ENSP00000498804.1:n.464+45_464+46insTGGGGGC | |
| ENST00000326873.11:c.464+45_464+46insTGGGGGC | ENSP00000324856.6:n.464+45_464+46insTGGGGGC | |
| ENST00000585851.1:c.291-915_291-914insTGGGGGC | ENSP00000467912.1:n.291-915_291-914insTGGGGGC | |
| ENST00000586243.5:c.464+45_464+46insTGGGGGC | ENSP00000467240.2:n.464+45_464+46insTGGGGGC | |
| ENST00000586358.5:n.287+45_287+46insTGGGGGC | ||
| ENST00000589152.5:n.554+45_554+46insTGGGGGC | ||
| NM_000455.4:c.464+45_464+46insTGGGGGC , LRG_319t1:c.464+45_464+46insTGGGGGC | NP_000446.1:n.464+45_464+46insTGGGGGC | |
| XM_005259617.1:c.464+45_464+46insTGGGGGC | XP_005259674.1:n.464+45_464+46insTGGGGGC | |
| XM_005259618.3:c.464+45_464+46insTGGGGGC | XP_005259675.1:n.464+45_464+46insTGGGGGC | |
| XM_011528209.1:c.242+45_242+46insTGGGGGC | XP_011526511.1:n.242+45_242+46insTGGGGGC | |
| XR_936204.1:n.1089+45_1089+46insTGGGGGC | ||
| XM_005259617.3:c.464+45_464+46insTGGGGGC | XP_005259674.1:n.464+45_464+46insTGGGGGC | |
| XM_011528209.2:c.242+45_242+46insTGGGGGC | XP_011526511.1:n.242+45_242+46insTGGGGGC | |
| XR_001753738.2:n.1089+45_1089+46insTGGGGGC | ||
| XR_001753739.1:n.1089+45_1089+46insTGGGGGC | ||
| XR_001753740.2:n.1089+45_1089+46insTGGGGGC | ||
| NM_000455.5:c.464+45_464+46insTGGGGGC MANE Select | NP_000446.1:n.464+45_464+46insTGGGGGC |