Linked Data
dbSNP Id:
rs1220371014
gnomAD v2:
1-65298827-A-AAAACT
gnomAD v3:
1-64833144-A-AAAACT
gnomAD v4:
1-64833144-A-AAAACT
MyVariant Identifiers:
chr1:g.65298827_65298828insAAACT (hg19)
chr1:g.64833144_64833145insAAACT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.64833146_64833150dup , CM000663.2:g.64833146_64833150dup | GRCh38 |
| NC_000001.10:g.65298829_65298833dup , CM000663.1:g.65298829_65298833dup | GRCh37 |
| NC_000001.9:g.65071417_65071421dup | NCBI36 |
| NG_023402.1:g.138356_138360dup | |
| NG_023402.2:g.239598_239602dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294428.8:c.*2161_*2165dup MANE Select | ENSP00000294428.3:n.*2161_*2165dup | |
| ENST00000294428.7:c.*2161_*2165dup | ENSP00000294428.3:n.*2161_*2165dup | |
| ENST00000371072.8:c.*2161_*2165dup | ENSP00000360112.4:n.*2161_*2165dup | |
| NM_018211.3:c.*2161_*2165dup | NP_060681.2:n.*2161_*2165dup | |
| XM_006710738.2:c.*2161_*2165dup | XP_006710801.2:n.*2161_*2165dup | |
| NM_001366165.1:c.*2161_*2165dup | NP_001353094.1:n.*2161_*2165dup | |
| XR_946693.3:n.4580_4584dup | ||
| NM_018211.4:c.*2161_*2165dup | NP_060681.2:n.*2161_*2165dup | |
| NM_001366165.2:c.*2161_*2165dup MANE Select | NP_001353094.1:n.*2161_*2165dup |