Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813974_129813977delinsAATC , CM000671.2:g.129813974_129813977delinsAATC | GRCh38 |
| NC_000009.11:g.132576253_132576256delinsAATC , CM000671.1:g.132576253_132576256delinsAATC | GRCh37 |
| NC_000009.10:g.131616074_131616077delinsAATC | NCBI36 |
| NG_008049.1:g.15186_15189delinsGATT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.994_997delinsGATT MANE Select | ENSP00000345719.4:p.Asp332= | |
| ENST00000651202.1:c.*262_*265delinsGATT | ENSP00000498222.1:n.*262_*265delinsGATT | |
| ENST00000351698.4:c.994_997delinsGATT | ENSP00000345719.4:p.Asp332= | |
| ENST00000474192.1:n.578_581delinsGATT | ||
| NM_000113.2:c.994_997delinsGATT | NP_000104.1:p.Asp332= | |
| XR_929731.3:n.1189_1192delinsGATT | ||
| NM_000113.3:c.994_997delinsGATT MANE Select | NP_000104.1:p.Asp332= |