Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23424079_23424080delinsAT , CM000676.2:g.23424079_23424080delinsAT | GRCh38 |
| NC_000014.8:g.23893288_23893289delinsAT , CM000676.1:g.23893288_23893289delinsAT | GRCh37 |
| NC_000014.7:g.22963128_22963129delinsAT | NCBI36 |
| NG_007884.1:g.16582_16583delinsAT , LRG_384:g.16582_16583delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2749_2750delinsAT MANE Select | ENSP00000347507.3:p.Ala917Ile | |
| ENST00000355349.3:c.2749_2750delinsAT | ENSP00000347507.3:p.Ala917Ile | |
| NM_000257.3:c.2749_2750delinsAT | NP_000248.2:p.Ala917Ile | |
| XR_245686.3:n.2855_2856delinsAT | ||
| XM_017021340.1:c.2749_2750delinsAT | XP_016876829.1:p.Ala917Ile | |
| NM_000257.4:c.2749_2750delinsAT MANE Select | NP_000248.2:p.Ala917Ile |