Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61590707_61590708delinsCT , CM000679.2:g.61590707_61590708delinsCT | GRCh38 |
| NC_000017.10:g.59668068_59668069delinsCT , CM000679.1:g.59668068_59668069delinsCT | GRCh37 |
| NC_000017.9:g.57022850_57022851delinsCT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521764.3:c.473_474delinsAG MANE Select | ENSP00000427802.1:p.Gln158= | |
| ENST00000521764.2:c.473_474delinsAG | ENSP00000427802.1:p.Gln158= | |
| NM_199290.3:c.473_474delinsAG | NP_954984.1:p.Gln158= | |
| NM_199290.4:c.473_474delinsAG MANE Select | NP_954984.1:p.Gln158= |