Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1395004_1395005delinsAC , CM000667.2:g.1395004_1395005delinsAC | GRCh38 |
| NC_000005.9:g.1395119_1395120delinsAC , CM000667.1:g.1395119_1395120delinsAC | GRCh37 |
| NC_000005.8:g.1448119_1448120delinsAC | NCBI36 |
| NG_015885.1:g.55424_55425delinsGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270349.12:c.1840-247_1840-246delinsGT MANE Select | ENSP00000270349.9:n.1840-247_1840-246deli... | |
| ENST00000270349.11:c.1840-247_1840-246delinsGT | ENSP00000270349.9:n.1840-247_1840-246deli... | |
| ENST00000512002.2:n.221-247_221-246delinsGT | ||
| NM_001044.4:c.1840-247_1840-246delinsGT | NP_001035.1:n.1840-247_1840-246delinsGT | |
| NM_001044.5:c.1840-247_1840-246delinsGT MANE Select | NP_001035.1:n.1840-247_1840-246delinsGT |