Linked Data
dbSNP Id:
rs1410875350
gnomAD v2:
19-1219450-C-CCGGGGGT
gnomAD v4:
19-1219451-C-CCGGGGGT
MyVariant Identifiers:
chr19:g.1219450_1219451insCGGGGGT (hg19)
chr19:g.1219451_1219452insCGGGGGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1219457_1219458insTCGGGGG , CM000681.2:g.1219457_1219458insTCGGGGG | GRCh38 |
| NC_000019.9:g.1219456_1219457insTCGGGGG , CM000681.1:g.1219456_1219457insTCGGGGG | GRCh37 |
| NC_000019.8:g.1170456_1170457insTCGGGGG | NCBI36 |
| NG_007460.2:g.35051_35052insTCGGGGG , LRG_319:g.35051_35052insTCGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.464+44_464+45insTCGGGGG | ENSP00000490268.2:n.464+44_464+45insTCGGGGG | |
| ENST00000585748.3:c.92+44_92+45insTCGGGGG | ENSP00000477641.2:n.92+44_92+45insTCGGGGG | |
| ENST00000585851.2:c.291-916_291-915insTCGGGGG | ENSP00000467912.2:n.291-916_291-915insTCGGGGG | |
| ENST00000326873.12:c.464+44_464+45insTCGGGGG MANE Select | ENSP00000324856.6:n.464+44_464+45insTCGGGGG | |
| ENST00000652231.1:c.464+44_464+45insTCGGGGG | ENSP00000498804.1:n.464+44_464+45insTCGGGGG | |
| ENST00000326873.11:c.464+44_464+45insTCGGGGG | ENSP00000324856.6:n.464+44_464+45insTCGGGGG | |
| ENST00000585851.1:c.291-916_291-915insTCGGGGG | ENSP00000467912.1:n.291-916_291-915insTCGGGGG | |
| ENST00000586243.5:c.464+44_464+45insTCGGGGG | ENSP00000467240.2:n.464+44_464+45insTCGGGGG | |
| ENST00000586358.5:n.287+44_287+45insTCGGGGG | ||
| ENST00000589152.5:n.554+44_554+45insTCGGGGG | ||
| NM_000455.4:c.464+44_464+45insTCGGGGG , LRG_319t1:c.464+44_464+45insTCGGGGG | NP_000446.1:n.464+44_464+45insTCGGGGG | |
| XM_005259617.1:c.464+44_464+45insTCGGGGG | XP_005259674.1:n.464+44_464+45insTCGGGGG | |
| XM_005259618.3:c.464+44_464+45insTCGGGGG | XP_005259675.1:n.464+44_464+45insTCGGGGG | |
| XM_011528209.1:c.242+44_242+45insTCGGGGG | XP_011526511.1:n.242+44_242+45insTCGGGGG | |
| XR_936204.1:n.1089+44_1089+45insTCGGGGG | ||
| XM_005259617.3:c.464+44_464+45insTCGGGGG | XP_005259674.1:n.464+44_464+45insTCGGGGG | |
| XM_011528209.2:c.242+44_242+45insTCGGGGG | XP_011526511.1:n.242+44_242+45insTCGGGGG | |
| XR_001753738.2:n.1089+44_1089+45insTCGGGGG | ||
| XR_001753739.1:n.1089+44_1089+45insTCGGGGG | ||
| XR_001753740.2:n.1089+44_1089+45insTCGGGGG | ||
| NM_000455.5:c.464+44_464+45insTCGGGGG MANE Select | NP_000446.1:n.464+44_464+45insTCGGGGG |