Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10643994_10643996delinsAAG , CM000682.2:g.10643994_10643996delinsAAG | GRCh38 |
| NC_000020.10:g.10624642_10624644delinsAAG , CM000682.1:g.10624642_10624644delinsAAG | GRCh37 |
| NC_000020.9:g.10572642_10572644delinsAAG | NCBI36 |
| NG_007496.1:g.35051_35053delinsCTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.2373-133_2373-131delinsCTT MANE Select | ENSP00000254958.4:n.2373-133_2373-131delinsCTT | |
| ENST00000617965.2:n.2962-133_2962-131delinsCTT | ||
| ENST00000254958.9:c.2373-133_2373-131delinsCTT | ENSP00000254958.4:n.2373-133_2373-131delinsCTT | |
| ENST00000423891.6:n.2239-133_2239-131delinsCTT | ||
| NM_000214.2:c.2373-133_2373-131delinsCTT | NP_000205.1:n.2373-133_2373-131delinsCTT | |
| NM_000214.3:c.2373-133_2373-131delinsCTT MANE Select | NP_000205.1:n.2373-133_2373-131delinsCTT |