Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652141_171652142delinsCT , CM000663.2:g.171652141_171652142delinsCT | GRCh38 |
| NC_000001.10:g.171621281_171621282delinsCT , CM000663.1:g.171621281_171621282delinsCT | GRCh37 |
| NC_000001.9:g.169887904_169887905delinsCT | NCBI36 |
| NG_008859.1:g.5492_5493delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.470_471delinsAG MANE Select | ENSP00000037502.5:p.Lys157= | |
| ENST00000638471.1:c.130+340_130+341delinsAG | ENSP00000491206.1:n.130+340_130+341delinsAG | |
| ENST00000037502.10:c.470_471delinsAG | ENSP00000037502.5:p.Lys157= | |
| ENST00000614688.1:c.470_471delinsAG | ENSP00000478680.1:p.Lys157= | |
| NM_000261.1:c.470_471delinsAG | NP_000252.1:p.Lys157= | |
| NM_000261.2:c.470_471delinsAG MANE Select | NP_000252.1:p.Lys157= |