Linked Data
dbSNP Id:
rs5888437
MyVariant Identifiers:
chr7:g.150950987_150950988insCC (hg19)
chr7:g.151253901_151253902insCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151253903_151253904dup , CM000669.2:g.151253903_151253904dup | GRCh38 |
| NC_000007.13:g.150950989_150950990dup , CM000669.1:g.150950989_150950990dup | GRCh37 |
| NC_000007.12:g.150581922_150581923dup | NCBI36 |
| NG_029468.1:g.28243_28244dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356800.6:c.40-8232_40-8231dup | ENSP00000349254.2:n.40-8232_40-8231dup | |
| ENST00000392811.6:c.40-8232_40-8231dup | ENSP00000376558.2:n.40-8232_40-8231dup | |
| ENST00000469154.5:c.71-10202_71-10201dup | ENSP00000417908.1:n.71-10202_71-10201dup | |
| ENST00000477169.5:n.184+392_184+393dup | ||
| ENST00000491651.1:c.40-8232_40-8231dup | ENSP00000419886.1:n.40-8232_40-8231dup | |
| NM_001003802.1:c.40-8232_40-8231dup | NP_001003802.1:n.40-8232_40-8231dup | |
| NM_003078.3:c.40-8232_40-8231dup | NP_003069.2:n.40-8232_40-8231dup | |
| XM_011516521.1:c.-16-10202_-16-10201dup | XP_011514823.1:n.-16-10202_-16-10201dup | |
| XR_928174.1:n.717-410_717-409dup | ||
| XM_011516521.2:c.-16-10202_-16-10201dup | XP_011514823.1:n.-16-10202_-16-10201dup | |
| XM_024446887.1:c.40-8232_40-8231dup | XP_024302655.1:n.40-8232_40-8231dup | |
| XM_024446888.1:c.-16-10202_-16-10201dup | XP_024302656.1:n.-16-10202_-16-10201dup | |
| XM_024446889.1:c.-221-10202_-221-10201dup | XP_024302657.1:n.-221-10202_-221-10201dup | |
| NM_003078.4:c.40-8232_40-8231dup | NP_003069.2:n.40-8232_40-8231dup | |
| NM_001003802.2:c.40-8232_40-8231dup | NP_001003802.1:n.40-8232_40-8231dup |