MyVariant.info:
GRCh38
chr8:g.27799640dupT
GRCh38
chr8:g.27799640_27799641insT
GRCh37
chr8:g.27657157dupT
GRCh37
chr8:g.27657157_27657158insT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27799640dup , CM000670.2:g.27799640dup | GRCh38 |
| NC_000008.10:g.27657157dup , CM000670.1:g.27657157dup | GRCh37 |
| NC_000008.9:g.27713076dup | NCBI36 |
| NG_008117.1:g.30100dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305188.13:c.1597dup MANE Select | ENSP00000306999.8:p.Cys533LeufsTer5 | |
| ENST00000305188.12:c.1597dup | ENSP00000306999.8:p.Cys533LeufsTer5 | |
| ENST00000397418.4:c.541dup | ENSP00000380563.2:p.Cys181LeufsTer5 | |
| ENST00000522378.5:c.*572dup | ENSP00000428928.1:n.*572dup | |
| NM_001017420.2:c.1597dup | NP_001017420.1:p.Cys533LeufsTer5 | |
| XM_011544421.1:c.1597dup | XP_011542723.1:p.Cys533LeufsTer5 | |
| XM_011544422.1:c.1597dup | XP_011542724.1:p.Cys533LeufsTer5 | |
| XR_949378.1:n.1681dup | ||
| XR_949379.1:n.1681dup | ||
| XM_011544421.2:c.1597dup | XP_011542723.1:p.Cys533LeufsTer5 | |
| XM_011544422.2:c.1597dup | XP_011542724.1:p.Cys533LeufsTer5 | |
| XR_949378.3:n.1681dup | ||
| NM_001017420.3:c.1597dup MANE Select | NP_001017420.1:p.Cys533LeufsTer5 |