Linked Data
dbSNP Id:
rs1029711260
MyVariant Identifiers:
chr12:g.129299594_129299595insT (hg19)
chr12:g.128815049_128815050insT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.128815051dup , CM000674.2:g.128815051dup | GRCh38 |
| NC_000012.11:g.129299596dup , CM000674.1:g.129299596dup | GRCh37 |
| NC_000012.10:g.127865549dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266771.10:c.567dup MANE Select | ENSP00000266771.5:p.Ala190SerfsTer3 | |
| ENST00000266771.9:c.567dup | ENSP00000266771.5:p.Ala190SerfsTer3 | |
| ENST00000366292.6:n.879dup | ||
| ENST00000376740.8:c.146dup | ||
| ENST00000376744.8:c.403dup | ||
| ENST00000535272.1:n.361dup | ||
| ENST00000539703.1:n.217dup | ||
| NM_145648.3:c.567dup | NP_663623.1:p.Ala190SerfsTer3 | |
| XM_011537895.1:c.717dup | XP_011536197.1:p.Ala240SerfsTer3 | |
| XR_429081.2:n.590dup | ||
| XR_944494.1:n.740dup | ||
| XR_944495.1:n.740dup | ||
| XR_944496.1:n.740dup | ||
| XR_944497.1:n.740dup | ||
| XM_017018791.1:c.717dup | XP_016874280.1:p.Ala240SerfsTer3 | |
| XM_017018792.1:c.717dup | XP_016874281.1:p.Ala240SerfsTer3 | |
| XM_017018793.1:c.567dup | XP_016874282.1:p.Ala190SerfsTer3 | |
| XR_002957287.1:n.590dup | ||
| XR_944496.2:n.740dup | ||
| NM_145648.4:c.567dup MANE Select | NP_663623.1:p.Ala190SerfsTer3 |