Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119422243_119422244delinsAA , CM000663.2:g.119422243_119422244delinsAA | GRCh38 |
| NC_000001.10:g.119964866_119964867delinsAA , CM000663.1:g.119964866_119964867delinsAA | GRCh37 |
| NC_000001.9:g.119766389_119766390delinsAA | NCBI36 |
| NG_013349.1:g.12313_12314delinsAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369416.4:c.742_743delinsAA MANE Select | ENSP00000358424.3:p.Val248Asn | |
| ENST00000369416.3:c.742_743delinsAA | ENSP00000358424.3:p.Val248Asn | |
| ENST00000543831.5:c.742_743delinsAA | ENSP00000445122.1:p.Val248Asn | |
| NM_000198.3:c.742_743delinsAA | NP_000189.1:p.Val248Asn | |
| NM_001166120.1:c.742_743delinsAA | NP_001159592.1:p.Val248Asn | |
| NM_000198.4:c.742_743delinsAA MANE Select | NP_000189.1:p.Val248Asn | |
| NM_001166120.2:c.742_743delinsAA | NP_001159592.1:p.Val248Asn |