Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177992703_177992710delinsTTGACCTC , CM000667.2:g.177992703_177992710delinsTTGACCTC | GRCh38 |
| NC_000005.9:g.177419704_177419711delinsTTGACCTC , CM000667.1:g.177419704_177419711delinsTTGACCTC | GRCh37 |
| NC_000005.8:g.177352310_177352317delinsTTGACCTC | NCBI36 |
| NG_015889.1:g.8533_8540delinsGAGGTCAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.680_*6delinsGAGGTCAA MANE Select | ENSP00000311290.2:n.[c.680_*6delinsGAGGTCAA;Ter227=] | |
| NM_006261.4:c.680_*6delinsGAGGTCAA | NP_006252.3:n.[c.680_*6delinsGAGGTCAA;Ter227=] | |
| NM_006261.5:c.680_*6delinsGAGGTCAA MANE Select | NP_006252.4:n.[c.680_*6delinsGAGGTCAA;Ter227=] |