Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.25123715_25123717del , CM000669.2:g.25123715_25123717del | GRCh38 |
| NC_000007.13:g.25163334_25163336del , CM000669.1:g.25163334_25163336del | GRCh37 |
| NC_000007.12:g.25129859_25129861del | NCBI36 |
| NG_023438.1:g.6645_6647del , LRG_876:g.6645_6647del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305786.7:c.302_304del MANE Select | ENSP00000307786.2:p.Lys101_Ala102delinsThr | |
| ENST00000305786.6:c.302_304del | ENSP00000307786.2:p.Lys101_Ala102delinsThr | |
| ENST00000409409.5:c.302_304del | ENSP00000386270.1:p.Lys101_Ala102delinsThr | |
| ENST00000409764.5:c.302_304del | ENSP00000387279.1:p.Lys101_Ala102delinsThr | |
| NM_018947.5:c.302_304del , LRG_876t1:c.302_304del | NP_061820.1:p.Lys101_Ala102delinsThr | |
| NM_018947.6:c.302_304del MANE Select | NP_061820.1:p.Lys101_Ala102delinsThr |