Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44942234_44942245dup , CM000664.2:g.44942234_44942245dup | GRCh38 |
| NC_000002.11:g.45169373_45169384dup , CM000664.1:g.45169373_45169384dup | GRCh37 |
| NC_000002.10:g.45022877_45022888dup | NCBI36 |
| NG_016222.1:g.5337_5348dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005413.4:c.130_141dup MANE Select | NP_005404.1:p.Gly47_Ser48insAlaGlyGlyGly |
| ENST00000260653.5:c.130_141dup MANE Select | ENSP00000260653.3:p.Gly47_Ser48insAlaGlyGlyGly |
| NM_005413.3:c.130_141dup | NP_005404.1:p.Gly47_Ser48insAlaGlyGlyGly |
| ENST00000260653.4:c.130_141dup | ENSP00000260653.3:p.Gly47_Ser48insAlaGlyGlyGly |
| XM_011533042.1:c.130_141dup | XP_011531344.1:p.Gly47_Ser48insAlaGlyGlyGly |