Linked Data
ClinVar Variation Id:
422422
dbSNP Id:
rs1064795772
gnomAD v3:
5-110739129-C-CGT
gnomAD v4:
5-110739129-C-CGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.110739130_110739131insTG , CM000667.2:g.110739130_110739131insTG | GRCh38 |
| NC_000005.9:g.110074831_110074832insTG , CM000667.1:g.110074831_110074832insTG | GRCh37 |
| NC_000005.8:g.110102730_110102731insTG | NCBI36 |
| NG_051334.1:g.5995_5996insTG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355943.8:c.11_12insTG MANE Select | ENSP00000348211.3:p.Arg5GlyfsTer? | |
| ENST00000355943.7:c.11_12insTG | ENSP00000348211.3:p.Arg5GlyfsTer? | |
| ENST00000447245.6:c.11_12insTG | ENSP00000399717.2:p.Arg5GlyfsTer? | |
| ENST00000508781.5:n.112+883_112+884insTG | ||
| ENST00000513807.5:c.-204+883_-204+884insTG | ENSP00000421134.1:n.-204+883_-204+884insT... | |
| NM_001303249.1:c.11_12insTG | NP_001290178.1:p.Arg5GlyfsTer? | |
| NM_001303250.1:c.10+883_10+884insTG | NP_001290179.1:n.10+883_10+884insTG | |
| NM_138773.2:c.11_12insTG | NP_620128.1:p.Arg5GlyfsTer? | |
| XM_011543708.1:c.11_12insTG | XP_011542010.1:p.Arg5GlyfsTer? | |
| NM_001303249.2:c.11_12insTG | NP_001290178.1:p.Arg5GlyfsTer? | |
| NM_001303250.2:c.10+883_10+884insTG | NP_001290179.1:n.10+883_10+884insTG | |
| NM_138773.3:c.11_12insTG | NP_620128.1:p.Arg5GlyfsTer? | |
| NR_138151.1:n.159_160insTG | ||
| NM_138773.4:c.11_12insTG MANE Select | NP_620128.1:p.Arg5GlyfsTer? | |
| NM_001303249.3:c.11_12insTG | NP_001290178.1:p.Arg5GlyfsTer? | |
| NM_001303250.3:c.10+883_10+884insTG | NP_001290179.1:n.10+883_10+884insTG | |
| NR_138151.2:n.124_125insTG |