Linked Data
dbSNP Id:
rs1483464350
MyVariant Identifiers:
chr20:g.31016508_31016509insGCTGGAGT (hg19)
chr20:g.32428705_32428706insGCTGGAGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32428708_32428715dup , CM000682.2:g.32428708_32428715dup | GRCh38 |
| NC_000020.10:g.31016511_31016518dup , CM000682.1:g.31016511_31016518dup | GRCh37 |
| NC_000020.9:g.30480172_30480179dup | NCBI36 |
| NG_027868.1:g.75365_75372dup , LRG_630:g.75365_75372dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.471+286_471+293dup MANE Select | ENSP00000364839.4:n.471+286_471+293dup | |
| ENST00000470145.3:n.490+286_490+293dup | ||
| ENST00000643168.1:c.387+286_387+293dup | ENSP00000495003.1:n.387+286_387+293dup | |
| ENST00000644587.1:c.*310+286_*310+293dup | ENSP00000494813.1:n.*310+286_*310+293dup | |
| ENST00000644615.1:n.175+286_175+293dup | ||
| ENST00000645514.1:n.295+286_295+293dup | ||
| ENST00000646985.1:c.441+286_441+293dup | ENSP00000495053.1:n.441+286_441+293dup | |
| ENST00000651418.1:c.471+286_471+293dup | ENSP00000499150.1:n.471+286_471+293dup | |
| ENST00000306058.9:c.456+286_456+293dup | ENSP00000305119.5:n.456+286_456+293dup | |
| ENST00000375687.8:c.471+286_471+293dup | ENSP00000364839.4:n.471+286_471+293dup | |
| ENST00000470145.2:n.490+286_490+293dup | ||
| ENST00000613218.4:c.471+286_471+293dup | ENSP00000480487.1:n.471+286_471+293dup | |
| ENST00000620121.4:c.471+286_471+293dup | ENSP00000481978.1:n.471+286_471+293dup | |
| NM_015338.5:c.471+286_471+293dup , LRG_630t1:c.471+286_471+293dup | NP_056153.2:n.471+286_471+293dup | |
| XM_006723727.2:c.468+286_468+293dup | XP_006723790.1:n.468+286_468+293dup | |
| XM_006723728.2:c.441+286_441+293dup | XP_006723791.1:n.441+286_441+293dup | |
| XM_006723730.2:c.387+286_387+293dup | XP_006723793.1:n.387+286_387+293dup | |
| XM_006723732.2:c.441+286_441+293dup | XP_006723795.1:n.441+286_441+293dup | |
| XM_011528647.1:c.735+286_735+293dup | XP_011526949.1:n.735+286_735+293dup | |
| XM_011528648.1:c.732+286_732+293dup | XP_011526950.1:n.732+286_732+293dup | |
| XM_011528649.1:c.651+286_651+293dup | XP_011526951.1:n.651+286_651+293dup | |
| XM_011528650.1:c.735+286_735+293dup | XP_011526952.1:n.735+286_735+293dup | |
| XM_011528651.1:c.450+286_450+293dup | XP_011526953.1:n.450+286_450+293dup | |
| XM_011528652.1:c.387+286_387+293dup | XP_011526954.1:n.387+286_387+293dup | |
| NM_001363734.1:c.441+286_441+293dup | NP_001350663.1:n.441+286_441+293dup | |
| XM_006723727.3:c.468+286_468+293dup | XP_006723790.1:n.468+286_468+293dup | |
| XM_006723728.3:c.441+286_441+293dup | XP_006723791.1:n.441+286_441+293dup | |
| XM_006723730.4:c.387+286_387+293dup | XP_006723793.1:n.387+286_387+293dup | |
| XM_011528648.3:c.732+286_732+293dup | XP_011526950.1:n.732+286_732+293dup | |
| XM_011528652.2:c.387+286_387+293dup | XP_011526954.1:n.387+286_387+293dup | |
| XM_017027704.1:c.387+286_387+293dup | XP_016883193.1:n.387+286_387+293dup | |
| XM_017027705.1:c.387+286_387+293dup | XP_016883194.1:n.387+286_387+293dup | |
| XM_017027706.1:c.471+286_471+293dup | XP_016883195.1:n.471+286_471+293dup | |
| NM_015338.6:c.471+286_471+293dup MANE Select | NP_056153.2:n.471+286_471+293dup |