Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91055560_91055570delinsAAGGCCACTTT , CM000674.2:g.91055560_91055570delinsAAGGCCACTTT | GRCh38 |
| NC_000012.11:g.91449337_91449347delinsAAGGCCACTTT , CM000674.1:g.91449337_91449347delinsAAGGCCACTTT | GRCh37 |
| NC_000012.10:g.89973468_89973478delinsAAGGCCACTTT | NCBI36 |
| NG_021223.1:g.7785_7795delinsAAAGTGGCCTT , LRG_538:g.7785_7795delinsAAAGTGGCCTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266719.4:c.712_722delinsAAAGTGGCCTT MANE Select | ENSP00000266719.3:p.Lys238= | |
| ENST00000266719.3:c.712_722delinsAAAGTGGCCTT | ENSP00000266719.3:p.Lys238= | |
| NM_007035.3:c.712_722delinsAAAGTGGCCTT , LRG_538t1:c.712_722delinsAAAGTGGCCTT | NP_008966.1:p.Lys238= | |
| XM_011537781.1:c.712_722delinsAAAGTGGCCTT | XP_011536083.1:p.Lys238= | |
| NM_007035.4:c.712_722delinsAAAGTGGCCTT MANE Select | NP_008966.1:p.Lys238= |