Linked Data
dbSNP Id:
rs763609904
ExAC:
22:42524820 T / TC
gnomAD v2:
22-42524820-T-TC
gnomAD v3:
22-42128818-T-TC
gnomAD v4:
22-42128818-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42128820dup , CM000684.2:g.42128820dup | GRCh38 |
| NC_000022.10:g.42524822dup , CM000684.1:g.42524822dup | GRCh37 |
| NC_000022.9:g.40854766dup | NCBI36 |
| NG_008376.3:g.6173dup | |
| NG_008376.4:g.6992dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.478dup | ENSP00000353241.6:p.Glu160GlyfsTer? | |
| ENST00000645361.2:c.631dup MANE Select | ENSP00000496150.1:p.Glu211GlyfsTer? | |
| ENST00000359033.4:c.478dup | ENSP00000351927.4:p.Glu160GlyfsTer? | |
| ENST00000360124.9:c.298dup | ENSP00000353241.5:p.Glu100GlyfsTer? | |
| ENST00000360608.9:c.631dup | ENSP00000353820.5:p.Glu211GlyfsTer? | |
| ENST00000389970.7:c.565dup | ENSP00000374620.4:p.Glu189GlyfsTer? | |
| ENST00000488442.1:n.1355dup | ||
| NM_000106.5:c.631dup | NP_000097.3:p.Glu211GlyfsTer? | |
| NM_001025161.2:c.478dup | NP_001020332.2:p.Glu160GlyfsTer? | |
| XM_011529966.1:c.631dup | XP_011528268.1:p.Glu211GlyfsTer? | |
| XM_011529967.1:c.631dup | XP_011528269.1:p.Glu211GlyfsTer? | |
| XM_011529968.1:c.631dup | XP_011528270.1:p.Glu211GlyfsTer? | |
| XM_011529969.1:c.487dup | XP_011528271.1:p.Glu163GlyfsTer? | |
| XM_011529970.1:c.478dup | XP_011528272.1:p.Glu160GlyfsTer? | |
| XM_011529971.1:c.487dup | XP_011528273.1:p.Glu163GlyfsTer? | |
| XM_011529972.1:c.631dup | XP_011528274.1:p.Glu211GlyfsTer? | |
| NM_000106.6:c.631dup MANE Select | NP_000097.3:p.Glu211GlyfsTer? | |
| NM_001025161.3:c.478dup | NP_001020332.2:p.Glu160GlyfsTer? |