Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652128_171652130dup , CM000663.2:g.171652128_171652130dup | GRCh38 |
| NC_000001.10:g.171621268_171621270dup , CM000663.1:g.171621268_171621270dup | GRCh37 |
| NC_000001.9:g.169887891_169887893dup | NCBI36 |
| NG_008859.1:g.5506_5508dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.484_486dup MANE Select | ENSP00000037502.5:p.Glu162_Asn163insGlu | |
| ENST00000638471.1:c.130+354_130+356dup | ENSP00000491206.1:n.130+354_130+356dup | |
| ENST00000037502.10:c.484_486dup | ENSP00000037502.5:p.Glu162_Asn163insGlu | |
| ENST00000614688.1:c.484_486dup | ENSP00000478680.1:p.Glu162_Asn163insGlu | |
| NM_000261.1:c.484_486dup | NP_000252.1:p.Glu162_Asn163insGlu | |
| NM_000261.2:c.484_486dup MANE Select | NP_000252.1:p.Glu162_Asn163insGlu |