Linked Data
dbSNP Id:
rs1554246018
gnomAD v2:
6-170871103-G-GCAGCAA
gnomAD v4:
6-170562015-G-GCAGCAA
MyVariant Identifiers:
chr6:g.170871103_170871104insCAGCAA (hg19)
chr6:g.170562015_170562016insCAGCAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.170562017_170562018insGCAACA , CM000668.2:g.170562017_170562018insGCAACA | GRCh38 |
| NC_000006.11:g.170871105_170871106insGCAACA , CM000668.1:g.170871105_170871106insGCAACA | GRCh37 |
| NC_000006.10:g.170713030_170713031insGCAACA | NCBI36 |
| NG_008165.1:g.12635_12636insGCAACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392092.7:c.281_282insGCAACA MANE Select | ENSP00000375942.2:p.Gln94_Gln95insGlnGln | |
| ENST00000636632.1:c.281_282insGCAACA | ENSP00000490461.1:p.Gln94_Gln95insGlnGln | |
| ENST00000230354.10:c.281_282insGCAACA | ENSP00000230354.5:p.Gln94_Gln95insGlnGln | |
| ENST00000392092.6:c.281_282insGCAACA | ENSP00000375942.2:p.Gln94_Gln95insGlnGln | |
| ENST00000421512.5:c.281_282insGCAACA | ENSP00000400008.1:p.Gln94_Gln95insGlnGln | |
| ENST00000423353.1:c.281_282insGCAACA | ENSP00000416482.1:p.Gln94_Gln95insGlnGln | |
| ENST00000540980.5:c.221_222insGCAACA | ENSP00000442132.1:p.Gln74_Gln75insGlnGln | |
| ENST00000616883.4:c.175-47_175-46insGCAACA | ENSP00000484118.1:n.175-47_175-46insGCAACA | |
| NM_001172085.1:c.221_222insGCAACA | NP_001165556.1:p.Gln74_Gln75insGlnGln | |
| NM_003194.4:c.281_282insGCAACA | NP_003185.1:p.Gln94_Gln95insGlnGln | |
| NM_003194.5:c.281_282insGCAACA MANE Select | NP_003185.1:p.Gln94_Gln95insGlnGln | |
| NM_001172085.2:c.221_222insGCAACA | NP_001165556.1:p.Gln74_Gln75insGlnGln |