Linked Data
dbSNP Id:
rs138157174
ExAC:
19:51412012 T / TGGGGG
MyVariant Identifiers:
chr19:g.51412012_51412013insGGGGG (hg19)
chr19:g.50908756_50908757insGGGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50908758_50908759insGGGGG , CM000681.2:g.50908758_50908759insGGGGG | GRCh38 |
| NC_000019.9:g.51412014_51412015insGGGGG , CM000681.1:g.51412014_51412015insGGGGG | GRCh37 |
| NC_000019.8:g.56103826_56103827insGGGGG | NCBI36 |
| NG_012154.2:g.6982_6983insCCCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324041.6:c.297_298insCCCCC MANE Select | ENSP00000326159.1:p.Ser100ProfsTer? | |
| ENST00000324041.5:c.297_298insCCCCC | ENSP00000326159.1:p.Ser100ProfsTer? | |
| ENST00000431178.2:c.150_151insCCCCC | ENSP00000399448.2:p.Ser51ProfsTer? | |
| ENST00000593885.1:c.12_13insCCCCC | ENSP00000469769.1:p.Ser5ProfsTer? | |
| ENST00000596876.1:n.216_217insCCCCC | ||
| ENST00000598305.5:c.12_13insCCCCC | ENSP00000469963.1:p.Ser5ProfsTer? | |
| ENST00000599865.5:n.150_151insCCCCC | ||
| ENST00000602148.1:c.309_310insCCCCC | ENSP00000472091.1:n.309_310insCCCCC | |
| NM_001302961.1:c.12_13insCCCCC | NP_001289890.1:p.Ser5ProfsTer? | |
| NM_004917.4:c.297_298insCCCCC | NP_004908.4:p.Ser100ProfsTer? | |
| NR_126566.1:n.290_291insCCCCC | ||
| XM_005259441.3:c.12_13insCCCCC | XP_005259498.2:p.Ser5ProfsTer? | |
| XM_011527545.1:c.297_298insCCCCC | XP_011525847.1:p.Ser100ProfsTer? | |
| XM_011527546.1:c.297_298insCCCCC | XP_011525848.1:p.Ser100ProfsTer? | |
| XM_011527547.1:c.150_151insCCCCC | XP_011525849.1:p.Ser51ProfsTer? | |
| XM_005259441.4:c.12_13insCCCCC | XP_005259498.2:p.Ser5ProfsTer? | |
| XM_011527545.3:c.297_298insCCCCC | XP_011525847.1:p.Ser100ProfsTer? | |
| XM_011527546.2:c.297_298insCCCCC | XP_011525848.1:p.Ser100ProfsTer? | |
| NM_001302961.2:c.12_13insCCCCC | NP_001289890.1:p.Ser5ProfsTer? | |
| NR_126566.2:n.290_291insCCCCC | ||
| NM_004917.5:c.297_298insCCCCC MANE Select | NP_004908.4:p.Ser100ProfsTer? |