Linked Data
dbSNP Id:
rs1326046288
MyVariant Identifiers:
chr1:g.65298778_65298779insGTTTG (hg19)
chr1:g.64833095_64833096insGTTTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.64833095_64833096insGTTTG , CM000663.2:g.64833095_64833096insGTTTG | GRCh38 |
| NC_000001.10:g.65298778_65298779insGTTTG , CM000663.1:g.65298778_65298779insGTTTG | GRCh37 |
| NC_000001.9:g.65071366_65071367insGTTTG | NCBI36 |
| NG_023402.1:g.138409_138410insCAAAC | |
| NG_023402.2:g.239651_239652insCAAAC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294428.8:c.*2110_*2111insGTTTG MANE Select | ENSP00000294428.3:n.*2110_*2111insGTTTG | |
| ENST00000294428.7:c.*2110_*2111insGTTTG | ENSP00000294428.3:n.*2110_*2111insGTTTG | |
| ENST00000371072.8:c.*2110_*2111insGTTTG | ENSP00000360112.4:n.*2110_*2111insGTTTG | |
| NM_018211.3:c.*2110_*2111insGTTTG | NP_060681.2:n.*2110_*2111insGTTTG | |
| XM_006710738.2:c.*2110_*2111insGTTTG | XP_006710801.2:n.*2110_*2111insGTTTG | |
| NM_001366165.1:c.*2110_*2111insGTTTG | NP_001353094.1:n.*2110_*2111insGTTTG | |
| XR_946693.3:n.4529_4530insGTTTG | ||
| NM_018211.4:c.*2110_*2111insGTTTG | NP_060681.2:n.*2110_*2111insGTTTG | |
| NM_001366165.2:c.*2110_*2111insGTTTG MANE Select | NP_001353094.1:n.*2110_*2111insGTTTG |