Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42698322_42698323delinsTC , CM000668.2:g.42698322_42698323delinsTC | GRCh38 |
| NC_000006.11:g.42666060_42666061delinsTC , CM000668.1:g.42666060_42666061delinsTC | GRCh37 |
| NC_000006.10:g.42774038_42774039delinsTC | NCBI36 |
| NG_009176.1:g.29298_29299delinsGA | |
| NG_009176.2:g.29298_29299delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000322.5:c.1013_1014delinsGA MANE Select | NP_000313.2:p.Asp338Gly |
| ENST00000230381.7:c.1013_1014delinsGA MANE Select | ENSP00000230381.5:p.Asp338Gly |
| NM_000322.4:c.1013_1014delinsGA | NP_000313.2:p.Asp338Gly |
| ENST00000230381.6:c.1013_1014delinsGA | ENSP00000230381.5:p.Asp338Gly |
| XR_926295.3:n.1900_1901delinsGA |