Linked Data
dbSNP Id:
rs1471198723
gnomAD v2:
1-204159543-C-CCCCCCCG
gnomAD v3:
1-204190415-C-CCCCCCCG
gnomAD v4:
1-204190415-C-CCCCCCCG
MyVariant Identifiers:
chr1:g.204159543_204159544insCCCCCCG (hg19)
chr1:g.204190415_204190416insCCCCCCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190420_204190421insCGCCCCC , CM000663.2:g.204190420_204190421insCGCCCCC | GRCh38 |
| NC_000001.10:g.204159548_204159549insCGCCCCC , CM000663.1:g.204159548_204159549insCGCCCCC | GRCh37 |
| NC_000001.9:g.202426171_202426172insCGCCCCC | NCBI36 |
| NG_032151.1:g.11076_11077insCGGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*68_*69insCGGGGGG MANE Select | ENSP00000356162.4:n.*68_*69insCGGGGGG | |
| ENST00000367194.4:c.*68_*69insCGGGGGG | ENSP00000356162.4:n.*68_*69insCGGGGGG | |
| NM_002256.3:c.*68_*69insCGGGGGG | NP_002247.3:n.*68_*69insCGGGGGG | |
| XM_011509525.1:c.*68_*69insCGGGGGG | XP_011507827.1:n.*68_*69insCGGGGGG | |
| NM_002256.4:c.*68_*69insCGGGGGG MANE Select | NP_002247.3:n.*68_*69insCGGGGGG |