Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990997_45990998delinsAA , CM000683.2:g.45990997_45990998delinsAA | GRCh38 |
| NC_000021.8:g.47410911_47410912delinsAA , CM000683.1:g.47410911_47410912delinsAA | GRCh37 |
| NC_000021.7:g.46235339_46235340delinsAA | NCBI36 |
| NG_008674.1:g.14249_14250delinsAA , LRG_475:g.14249_14250delinsAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1075_1076delinsAA MANE Select | ENSP00000355180.3:p.Gly359Asn | |
| ENST00000361866.7:c.1075_1076delinsAA | ENSP00000355180.3:p.Gly359Asn | |
| ENST00000612273.1:c.1075_1076delinsAA | ENSP00000483630.1:p.Gly359Asn | |
| NM_001848.2:c.1075_1076delinsAA , LRG_475t1:c.1075_1076delinsAA | NP_001839.2:p.Gly359Asn | |
| NM_001848.3:c.1075_1076delinsAA MANE Select | NP_001839.2:p.Gly359Asn |