Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42698322_42698323delinsAC , CM000668.2:g.42698322_42698323delinsAC | GRCh38 |
| NC_000006.11:g.42666060_42666061delinsAC , CM000668.1:g.42666060_42666061delinsAC | GRCh37 |
| NC_000006.10:g.42774038_42774039delinsAC | NCBI36 |
| NG_009176.1:g.29298_29299delinsGT | |
| NG_009176.2:g.29298_29299delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.1013_1014delinsGT MANE Select | ENSP00000230381.5:p.Asp338Gly | |
| ENST00000230381.6:c.1013_1014delinsGT | ENSP00000230381.5:p.Asp338Gly | |
| NM_000322.4:c.1013_1014delinsGT | NP_000313.2:p.Asp338Gly | |
| XR_926295.3:n.1900_1901delinsGT | ||
| NM_000322.5:c.1013_1014delinsGT MANE Select | NP_000313.2:p.Asp338Gly |