Linked Data
dbSNP Id:
rs1555737876
gnomAD v2:
19-1219443-G-GCAGGGGC
gnomAD v3:
19-1219444-G-GCAGGGGC
gnomAD v4:
19-1219444-G-GCAGGGGC
MyVariant Identifiers:
chr19:g.1219443_1219444insCAGGGGC (hg19)
chr19:g.1219444_1219445insCAGGGGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1219445_1219446insAGGGGCC , CM000681.2:g.1219445_1219446insAGGGGCC | GRCh38 |
| NC_000019.9:g.1219444_1219445insAGGGGCC , CM000681.1:g.1219444_1219445insAGGGGCC | GRCh37 |
| NC_000019.8:g.1170444_1170445insAGGGGCC | NCBI36 |
| NG_007460.2:g.35039_35040insAGGGGCC , LRG_319:g.35039_35040insAGGGGCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.464+32_464+33insAGGGGCC | ENSP00000490268.2:n.464+32_464+33insAGGGGCC | |
| ENST00000585748.3:c.92+32_92+33insAGGGGCC | ENSP00000477641.2:n.92+32_92+33insAGGGGCC | |
| ENST00000585851.2:c.291-928_291-927insAGGGGCC | ENSP00000467912.2:n.291-928_291-927insAGGGGCC | |
| ENST00000326873.12:c.464+32_464+33insAGGGGCC MANE Select | ENSP00000324856.6:n.464+32_464+33insAGGGGCC | |
| ENST00000652231.1:c.464+32_464+33insAGGGGCC | ENSP00000498804.1:n.464+32_464+33insAGGGGCC | |
| ENST00000326873.11:c.464+32_464+33insAGGGGCC | ENSP00000324856.6:n.464+32_464+33insAGGGGCC | |
| ENST00000585851.1:c.291-928_291-927insAGGGGCC | ENSP00000467912.1:n.291-928_291-927insAGGGGCC | |
| ENST00000586243.5:c.464+32_464+33insAGGGGCC | ENSP00000467240.2:n.464+32_464+33insAGGGGCC | |
| ENST00000586358.5:n.287+32_287+33insAGGGGCC | ||
| ENST00000589152.5:n.554+32_554+33insAGGGGCC | ||
| NM_000455.4:c.464+32_464+33insAGGGGCC , LRG_319t1:c.464+32_464+33insAGGGGCC | NP_000446.1:n.464+32_464+33insAGGGGCC | |
| XM_005259617.1:c.464+32_464+33insAGGGGCC | XP_005259674.1:n.464+32_464+33insAGGGGCC | |
| XM_005259618.3:c.464+32_464+33insAGGGGCC | XP_005259675.1:n.464+32_464+33insAGGGGCC | |
| XM_011528209.1:c.242+32_242+33insAGGGGCC | XP_011526511.1:n.242+32_242+33insAGGGGCC | |
| XR_936204.1:n.1089+32_1089+33insAGGGGCC | ||
| XM_005259617.3:c.464+32_464+33insAGGGGCC | XP_005259674.1:n.464+32_464+33insAGGGGCC | |
| XM_011528209.2:c.242+32_242+33insAGGGGCC | XP_011526511.1:n.242+32_242+33insAGGGGCC | |
| XR_001753738.2:n.1089+32_1089+33insAGGGGCC | ||
| XR_001753739.1:n.1089+32_1089+33insAGGGGCC | ||
| XR_001753740.2:n.1089+32_1089+33insAGGGGCC | ||
| NM_000455.5:c.464+32_464+33insAGGGGCC MANE Select | NP_000446.1:n.464+32_464+33insAGGGGCC |