MyVariant.info:
GRCh38
chr19:g.7533562del
GRCh38
chr19:g.7533561del
GRCh37
chr19:g.7598448del
GRCh37
chr19:g.7598447del
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533562del , CM000681.2:g.7533562del | GRCh38 |
| NC_000019.9:g.7598448del , CM000681.1:g.7598448del | GRCh37 |
| NC_000019.8:g.7504448del | NCBI36 |
| NG_013374.1:g.4411del | |
| NG_015806.1:g.15953del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1615del MANE Select | ENSP00000264079.5:p.Ala539ProfsTer? | |
| ENST00000264079.10:c.1615del | ENSP00000264079.5:p.Ala539ProfsTer? | |
| ENST00000394321.9:n.1930del | ||
| ENST00000599334.1:c.343del | ||
| ENST00000602227.1:n.169del | ||
| NM_020533.2:c.1615del | NP_065394.1:p.Ala539ProfsTer? | |
| NM_020533.3:c.1615del MANE Select | NP_065394.1:p.Ala539ProfsTer? |