Linked Data
dbSNP Id:
rs1332883080
gnomAD v2:
1-171621192-T-TGG
gnomAD v4:
1-171652052-T-TGG
MyVariant Identifiers:
chr1:g.171621192_171621193insGG (hg19)
chr1:g.171652052_171652053insGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652055_171652056dup , CM000663.2:g.171652055_171652056dup | GRCh38 |
| NC_000001.10:g.171621195_171621196dup , CM000663.1:g.171621195_171621196dup | GRCh37 |
| NC_000001.9:g.169887818_169887819dup | NCBI36 |
| NG_008859.1:g.5580_5581dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.558_559dup MANE Select | ENSP00000037502.5:p.Gln187ProfsTer30 | |
| ENST00000638471.1:c.130+428_130+429dup | ENSP00000491206.1:n.130+428_130+429dup | |
| ENST00000037502.10:c.558_559dup | ENSP00000037502.5:p.Gln187ProfsTer30 | |
| ENST00000614688.1:c.558_559dup | ENSP00000478680.1:p.Gln187ProfsTer30 | |
| NM_000261.1:c.558_559dup | NP_000252.1:p.Gln187ProfsTer30 | |
| NM_000261.2:c.558_559dup MANE Select | NP_000252.1:p.Gln187ProfsTer30 |