Linked Data
dbSNP Id:
rs1193853564
gnomAD v3:
19-1219453-G-GGGGGCCA
gnomAD v4:
19-1219453-G-GGGGGCCA
MyVariant Identifiers:
chr19:g.1219452_1219453insGGGGCCA (hg19)
chr19:g.1219453_1219454insGGGGCCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1219456_1219462dup , CM000681.2:g.1219456_1219462dup | GRCh38 |
| NC_000019.9:g.1219455_1219461dup , CM000681.1:g.1219455_1219461dup | GRCh37 |
| NC_000019.8:g.1170455_1170461dup | NCBI36 |
| NG_007460.2:g.35050_35056dup , LRG_319:g.35050_35056dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.464+43_464+49dup | ENSP00000490268.2:n.464+43_464+49dup | |
| ENST00000585748.3:c.92+43_92+49dup | ENSP00000477641.2:n.92+43_92+49dup | |
| ENST00000585851.2:c.291-917_291-911dup | ENSP00000467912.2:n.291-917_291-911dup | |
| ENST00000326873.12:c.464+43_464+49dup MANE Select | ENSP00000324856.6:n.464+43_464+49dup | |
| ENST00000652231.1:c.464+43_464+49dup | ENSP00000498804.1:n.464+43_464+49dup | |
| ENST00000326873.11:c.464+43_464+49dup | ENSP00000324856.6:n.464+43_464+49dup | |
| ENST00000585851.1:c.291-917_291-911dup | ENSP00000467912.1:n.291-917_291-911dup | |
| ENST00000586243.5:c.464+43_464+49dup | ENSP00000467240.2:n.464+43_464+49dup | |
| ENST00000586358.5:n.287+43_287+49dup | ||
| ENST00000589152.5:n.554+43_554+49dup | ||
| NM_000455.4:c.464+43_464+49dup , LRG_319t1:c.464+43_464+49dup | NP_000446.1:n.464+43_464+49dup | |
| XM_005259617.1:c.464+43_464+49dup | XP_005259674.1:n.464+43_464+49dup | |
| XM_005259618.3:c.464+43_464+49dup | XP_005259675.1:n.464+43_464+49dup | |
| XM_011528209.1:c.242+43_242+49dup | XP_011526511.1:n.242+43_242+49dup | |
| XR_936204.1:n.1089+43_1089+49dup | ||
| XM_005259617.3:c.464+43_464+49dup | XP_005259674.1:n.464+43_464+49dup | |
| XM_011528209.2:c.242+43_242+49dup | XP_011526511.1:n.242+43_242+49dup | |
| XR_001753738.2:n.1089+43_1089+49dup | ||
| XR_001753739.1:n.1089+43_1089+49dup | ||
| XR_001753740.2:n.1089+43_1089+49dup | ||
| NM_000455.5:c.464+43_464+49dup MANE Select | NP_000446.1:n.464+43_464+49dup |