Linked Data
dbSNP Id:
rs1401194340
gnomAD v4:
1-64833145-A-AAACT
MyVariant Identifiers:
chr1:g.65298828_65298829insAACT (hg19)
chr1:g.64833145_64833146insAACT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.64833147_64833150dup , CM000663.2:g.64833147_64833150dup | GRCh38 |
| NC_000001.10:g.65298830_65298833dup , CM000663.1:g.65298830_65298833dup | GRCh37 |
| NC_000001.9:g.65071418_65071421dup | NCBI36 |
| NG_023402.1:g.138356_138359dup | |
| NG_023402.2:g.239598_239601dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294428.8:c.*2162_*2165dup MANE Select | ENSP00000294428.3:n.*2162_*2165dup | |
| ENST00000294428.7:c.*2162_*2165dup | ENSP00000294428.3:n.*2162_*2165dup | |
| ENST00000371072.8:c.*2162_*2165dup | ENSP00000360112.4:n.*2162_*2165dup | |
| NM_018211.3:c.*2162_*2165dup | NP_060681.2:n.*2162_*2165dup | |
| XM_006710738.2:c.*2162_*2165dup | XP_006710801.2:n.*2162_*2165dup | |
| NM_001366165.1:c.*2162_*2165dup | NP_001353094.1:n.*2162_*2165dup | |
| XR_946693.3:n.4581_4584dup | ||
| NM_018211.4:c.*2162_*2165dup | NP_060681.2:n.*2162_*2165dup | |
| NM_001366165.2:c.*2162_*2165dup MANE Select | NP_001353094.1:n.*2162_*2165dup |