Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75769698_75769699delinsAT , CM000669.2:g.75769698_75769699delinsAT | GRCh38 |
| NC_000007.13:g.75399016_75399017delinsAT , CM000669.1:g.75399016_75399017delinsAT | GRCh37 |
| NC_000007.12:g.75236952_75236953delinsAT | NCBI36 |
| NG_015989.1:g.25048_25049delinsAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000005180.9:c.279_280delinsAT MANE Select | ENSP00000005180.4:p.Gln93= | |
| ENST00000005180.8:c.279_280delinsAT | ENSP00000005180.4:p.Gln93= | |
| ENST00000394905.2:c.279_280delinsAT | ENSP00000378365.2:p.Gln93= | |
| NM_006072.4:c.279_280delinsAT | NP_006063.1:p.Gln93= | |
| XM_017011671.1:c.441_442delinsAT | XP_016867160.1:p.Gln147= | |
| XM_017011672.1:c.279_280delinsAT | XP_016867161.1:p.Gln93= | |
| NM_001371936.1:c.279_280delinsAT | NP_001358865.1:p.Gln93= | |
| NM_001371938.1:c.279_280delinsAT MANE Select | NP_001358867.1:p.Gln93= |