MyVariant.info:
GRCh38
chr8:g.27780223dupA
GRCh38
chr8:g.27780218_27780219insA
GRCh37
chr8:g.27637740dupA
GRCh37
chr8:g.27637735_27637736insA
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000878 (NFE)
Exomes Max Group AF
0.00000852 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27780223dup , CM000670.2:g.27780223dup | GRCh38 |
| NC_000008.10:g.27637740dup , CM000670.1:g.27637740dup | GRCh37 |
| NC_000008.9:g.27693659dup | NCBI36 |
| NG_008117.1:g.10683dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305188.13:c.911dup MANE Select | ENSP00000306999.8:p.Asn304LysfsTer2 | |
| ENST00000305188.12:c.911dup | ENSP00000306999.8:p.Asn304LysfsTer2 | |
| ENST00000518262.5:c.25dup | ||
| ENST00000522378.5:c.861+3054dup | ENSP00000428928.1:n.861+3054dup | |
| NM_001017420.2:c.911dup | NP_001017420.1:p.Asn304LysfsTer2 | |
| XM_011544421.1:c.911dup | XP_011542723.1:p.Asn304LysfsTer2 | |
| XM_011544422.1:c.911dup | XP_011542724.1:p.Asn304LysfsTer2 | |
| XR_949378.1:n.995dup | ||
| XR_949379.1:n.995dup | ||
| XM_011544421.2:c.911dup | XP_011542723.1:p.Asn304LysfsTer2 | |
| XM_011544422.2:c.911dup | XP_011542724.1:p.Asn304LysfsTer2 | |
| XR_949378.3:n.995dup | ||
| NM_001017420.3:c.911dup MANE Select | NP_001017420.1:p.Asn304LysfsTer2 |