Linked Data
dbSNP Id:
rs753571907
gnomAD v4:
5-1213573-C-CACACTGAGCACAGG
MyVariant Identifiers:
chr5:g.1213688_1213689insACACTGAGCACAGG (hg19)
chr5:g.1213573_1213574insACACTGAGCACAGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213573_1213574insACACTGAGCACAGG , CM000667.2:g.1213573_1213574insACACTGAGCACAGG | GRCh38 |
| NC_000005.9:g.1213688_1213689insACACTGAGCACAGG , CM000667.1:g.1213688_1213689insACACTGAGCACAGG | GRCh37 |
| NC_000005.8:g.1266688_1266689insACACTGAGCACAGG | NCBI36 |
| NG_008282.1:g.16979_16980insACACTGAGCACAGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.774_774+1insACACTGAGCACAGG MANE Select | ENSP00000305302.10:n.774_774+1insACACTGAGCACAGG | |
| ENST00000304460.10:c.774_774+1insACACTGAGCACAGG | ENSP00000305302.10:n.774_774+1insACACTGAGCACAGG | |
| ENST00000515652.5:c.682_682+1insACACTGAGCACAGG | ENSP00000425701.1:n.682_682+1insACACTGAGCACAGG | |
| NM_001003841.2:c.774_774+1insACACTGAGCACAGG | NP_001003841.1:n.774_774+1insACACTGAGCACAGG | |
| NM_001003841.3:c.774_774+1insACACTGAGCACAGG MANE Select | NP_001003841.1:n.774_774+1insACACTGAGCACAGG |