Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6031638_6031640delinsAAG , CM000674.2:g.6031638_6031640delinsAAG | GRCh38 |
| NC_000012.11:g.6140804_6140806delinsAAG , CM000674.1:g.6140804_6140806delinsAAG | GRCh37 |
| NC_000012.10:g.6011065_6011067delinsAAG | NCBI36 |
| NG_009072.1:g.98031_98033delinsCTT | |
| NG_009072.2:g.98031_98033delinsCTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.2686-62_2686-60delinsCTT MANE Select | ENSP00000261405.5:n.2686-62_2686-60delinsCTT | |
| ENST00000261405.9:c.2686-62_2686-60delinsCTT | ENSP00000261405.5:n.2686-62_2686-60delinsCTT | |
| ENST00000538635.5:n.421-37706_421-37704delinsCTT | ||
| NM_000552.3:c.2686-62_2686-60delinsCTT | NP_000543.2:n.2686-62_2686-60delinsCTT | |
| NM_000552.4:c.2686-62_2686-60delinsCTT | NP_000543.2:n.2686-62_2686-60delinsCTT | |
| NM_000552.5:c.2686-62_2686-60delinsCTT MANE Select | NP_000543.3:n.2686-62_2686-60delinsCTT |