Linked Data
dbSNP Id:
rs1553307873
gnomAD v2:
1-204159544-C-CCT
gnomAD v3:
1-204190416-C-CCT
gnomAD v4:
1-204190416-C-CCT
MyVariant Identifiers:
chr1:g.204159544_204159545insCT (hg19)
chr1:g.204190416_204190417insCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190417_204190418insTC , CM000663.2:g.204190417_204190418insTC | GRCh38 |
| NC_000001.10:g.204159545_204159546insTC , CM000663.1:g.204159545_204159546insTC | GRCh37 |
| NC_000001.9:g.202426168_202426169insTC | NCBI36 |
| NG_032151.1:g.11075_11076insAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*67_*68insAG MANE Select | ENSP00000356162.4:n.*67_*68insAG | |
| ENST00000367194.4:c.*67_*68insAG | ENSP00000356162.4:n.*67_*68insAG | |
| NM_002256.3:c.*67_*68insAG | NP_002247.3:n.*67_*68insAG | |
| XM_011509525.1:c.*67_*68insAG | XP_011507827.1:n.*67_*68insAG | |
| NM_002256.4:c.*67_*68insAG MANE Select | NP_002247.3:n.*67_*68insAG |