Linked Data
dbSNP Id:
rs1159943178
gnomAD v3:
1-64833096-T-TGTTG
gnomAD v4:
1-64833096-T-TGTTG
MyVariant Identifiers:
chr1:g.65298779_65298780insGTTG (hg19)
chr1:g.64833096_64833097insGTTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.64833099_64833100insGGTT , CM000663.2:g.64833099_64833100insGGTT | GRCh38 |
| NC_000001.10:g.65298782_65298783insGGTT , CM000663.1:g.65298782_65298783insGGTT | GRCh37 |
| NC_000001.9:g.65071370_65071371insGGTT | NCBI36 |
| NG_023402.1:g.138408_138409insCAAC | |
| NG_023402.2:g.239650_239651insCAAC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294428.8:c.*2114_*2115insGGTT MANE Select | ENSP00000294428.3:n.*2114_*2115insGGTT | |
| ENST00000294428.7:c.*2114_*2115insGGTT | ENSP00000294428.3:n.*2114_*2115insGGTT | |
| ENST00000371072.8:c.*2114_*2115insGGTT | ENSP00000360112.4:n.*2114_*2115insGGTT | |
| NM_018211.3:c.*2114_*2115insGGTT | NP_060681.2:n.*2114_*2115insGGTT | |
| XM_006710738.2:c.*2114_*2115insGGTT | XP_006710801.2:n.*2114_*2115insGGTT | |
| NM_001366165.1:c.*2114_*2115insGGTT | NP_001353094.1:n.*2114_*2115insGGTT | |
| XR_946693.3:n.4533_4534insGGTT | ||
| NM_018211.4:c.*2114_*2115insGGTT | NP_060681.2:n.*2114_*2115insGGTT | |
| NM_001366165.2:c.*2114_*2115insGGTT MANE Select | NP_001353094.1:n.*2114_*2115insGGTT |