Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24956493_24956494delinsCT , CM000670.2:g.24956493_24956494delinsCT | GRCh38 |
| NC_000008.10:g.24814007_24814008delinsCT , CM000670.1:g.24814007_24814008delinsCT | GRCh37 |
| NC_000008.9:g.24869924_24869925delinsCT | NCBI36 |
| NG_008492.1:g.5124_5125delinsAG , LRG_259:g.5124_5125delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.2:c.22_23delinsAG MANE Select | ENSP00000482169.2:p.Pro8Arg | |
| ENST00000610854.1:c.22_23delinsAG | ENSP00000482169.1:p.Pro8Arg | |
| ENST00000615973.1:n.228_229delinsAG | ||
| ENST00000619417.1:c.22_23delinsAG | ENSP00000483690.1:p.Pro8Arg | |
| NM_006158.4:c.22_23delinsAG , LRG_259t1:c.22_23delinsAG | NP_006149.2:p.Pro8Arg | |
| NM_006158.5:c.22_23delinsAG MANE Select | NP_006149.2:p.Pro8Arg |