Linked Data
dbSNP Id:
rs1333813843
MyVariant Identifiers:
chr7:g.19156737del (hg19)
chr7:g.19117115del (hg38)
chr7:g.19117114del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117115del , CM000669.2:g.19117115del | GRCh38 |
| NC_000007.13:g.19156738del , CM000669.1:g.19156738del | GRCh37 |
| NC_000007.12:g.19123263del | NCBI36 |
| NG_008114.1:g.5559del | |
| NG_008114.2:g.5559del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.208del MANE Select | ENSP00000242261.5:p.Ala70ProfsTer? | |
| ENST00000242261.5:c.208del | ENSP00000242261.5:p.Ala70ProfsTer? | |
| ENST00000354571.5:c.5del | ||
| NM_000474.3:c.208del | NP_000465.1:p.Ala70ProfsTer? | |
| XM_011515496.1:c.208del | XP_011513798.1:p.Ala70ProfsTer? | |
| NR_149001.1:n.559del | ||
| NM_000474.4:c.208del MANE Select | NP_000465.1:p.Ala70ProfsTer? | |
| NR_149001.2:n.523del |