Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.40354165_40354166insAA , CM000666.2:g.40354165_40354166insAA | GRCh38 |
| NC_000004.11:g.40356182_40356183insAA , CM000666.1:g.40356182_40356183insAA | GRCh37 |
| NC_000004.10:g.40050939_40050940insAA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310169.3:c.1085_1086insAA MANE Select | ENSP00000312663.2:p.His362GlnfsTer22 | |
| ENST00000310169.2:c.1085_1086insAA | ENSP00000312663.2:p.His362GlnfsTer22 | |
| NM_017581.3:c.1085_1086insAA | NP_060051.2:p.His362GlnfsTer22 | |
| NM_017581.4:c.1085_1086insAA MANE Select | NP_060051.2:p.His362GlnfsTer22 |