MyVariant.info:
GRCh38
chr8:g.27776560_27776561del
GRCh38
chr8:g.27776559_27776560del
GRCh37
chr8:g.27634077_27634078del
GRCh37
chr8:g.27634076_27634077del
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27776560_27776561del , CM000670.2:g.27776560_27776561del | GRCh38 |
| NC_000008.10:g.27634077_27634078del , CM000670.1:g.27634077_27634078del | GRCh37 |
| NC_000008.9:g.27689996_27689997del | NCBI36 |
| NG_008117.1:g.7020_7021del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305188.13:c.252_253del MANE Select | ENSP00000306999.8:p.Ser85PhefsTer6 | |
| ENST00000305188.12:c.252_253del | ENSP00000306999.8:p.Ser85PhefsTer6 | |
| ENST00000519637.1:c.252_253del | ENSP00000428027.1:p.Ser85PhefsTer6 | |
| ENST00000522378.5:c.252_253del | ENSP00000428928.1:p.Ser85PhefsTer6 | |
| ENST00000523566.5:c.252_253del | ENSP00000428435.1:p.Ser85PhefsTer6 | |
| ENST00000523910.1:n.51_52del | ||
| ENST00000524293.1:n.270_271del | ||
| NM_001017420.2:c.252_253del | NP_001017420.1:p.Ser85PhefsTer6 | |
| XM_011544421.1:c.252_253del | XP_011542723.1:p.Ser85PhefsTer6 | |
| XM_011544422.1:c.252_253del | XP_011542724.1:p.Ser85PhefsTer6 | |
| XR_949378.1:n.336_337del | ||
| XR_949379.1:n.336_337del | ||
| XM_011544421.2:c.252_253del | XP_011542723.1:p.Ser85PhefsTer6 | |
| XM_011544422.2:c.252_253del | XP_011542724.1:p.Ser85PhefsTer6 | |
| XR_949378.3:n.336_337del | ||
| NM_001017420.3:c.252_253del MANE Select | NP_001017420.1:p.Ser85PhefsTer6 |