Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94988926_94988927insTTA , CM000672.2:g.94988926_94988927insTTA | GRCh38 |
| NC_000010.10:g.96748683_96748684insTTA , CM000672.1:g.96748683_96748684insTTA | GRCh37 |
| NC_000010.9:g.96738673_96738674insTTA | NCBI36 |
| NG_008385.1:g.55269_55270insTTA | |
| NG_008385.2:g.55769_55770insTTA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.1371_1372insTTA MANE Select | ENSP00000260682.6:p.Asn457_Leu458insLeu | |
| ENST00000643112.1:c.*380_*381insTTA | ENSP00000496202.1:n.*380_*381insTTA | |
| ENST00000260682.6:c.1371_1372insTTA | ENSP00000260682.6:p.Asn457_Leu458insLeu | |
| NM_000771.3:c.1371_1372insTTA | NP_000762.2:p.Asn457_Leu458insLeu | |
| NM_000771.4:c.1371_1372insTTA MANE Select | NP_000762.2:p.Asn457_Leu458insLeu |