Linked Data
dbSNP Id:
rs1558252995
gnomAD v2:
1-204159538-C-CG
gnomAD v3:
1-204190410-C-CG
gnomAD v4:
1-204190410-C-CG
MyVariant Identifiers:
chr1:g.204159539_204159542delinsGCCCG (hg19)
chr1:g.204190411_204190414delinsGCCCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190410_204190411insG , CM000663.2:g.204190410_204190411insG | GRCh38 |
| NC_000001.10:g.204159538_204159539insG , CM000663.1:g.204159538_204159539insG | GRCh37 |
| NC_000001.9:g.202426161_202426162insG | NCBI36 |
| NG_032151.1:g.11081_11082insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*73_*74insC MANE Select | ENSP00000356162.4:n.*73_*74insC | |
| ENST00000367194.4:c.*73_*74insC | ENSP00000356162.4:n.*73_*74insC | |
| NM_002256.3:c.*73_*74insC | NP_002247.3:n.*73_*74insC | |
| XM_011509525.1:c.*73_*74insC | XP_011507827.1:n.*73_*74insC | |
| NM_002256.4:c.*73_*74insC MANE Select | NP_002247.3:n.*73_*74insC |