Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56815584_56815589dup , CM000667.2:g.56815584_56815589dup | GRCh38 |
| NC_000005.9:g.56111411_56111416dup , CM000667.1:g.56111411_56111416dup | GRCh37 |
| NC_000005.8:g.56147168_56147173dup | NCBI36 |
| NG_031884.1:g.5512_5517dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005921.2:c.11_16dup MANE Select | NP_005912.1:p.Ala5_Gly6insAlaAla |
| ENST00000399503.4:c.11_16dup MANE Select | ENSP00000382423.3:p.Ala5_Gly6insAlaAla |
| NM_005921.1:c.11_16dup | NP_005912.1:p.Ala5_Gly6insAlaAla |
| ENST00000399503.3:c.11_16dup | ENSP00000382423.3:p.Ala5_Gly6insAlaAla |
| XM_011543407.1:c.11_16dup | XP_011541709.1:p.Ala5_Gly6insAlaAla |
| XM_011543408.1:c.11_16dup | XP_011541710.1:p.Ala5_Gly6insAlaAla |
| XR_001742068.2:n.42_47dup |