Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215766715_215766716delinsAG , CM000663.2:g.215766715_215766716delinsAG | GRCh38 |
| NC_000001.10:g.215940057_215940058delinsAG , CM000663.1:g.215940057_215940058delinsAG | GRCh37 |
| NC_000001.9:g.214006680_214006681delinsAG | NCBI36 |
| NG_009497.1:g.661681_661682delinsCT | |
| NG_009497.2:g.661733_661734delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.11012_11013delinsCT MANE Select | ENSP00000305941.3:p.Pro3671= | |
| ENST00000674083.1:c.11012_11013delinsCT | ENSP00000501296.1:p.Pro3671= | |
| ENST00000307340.7:c.11012_11013delinsCT | ENSP00000305941.3:p.Pro3671= | |
| NM_206933.2:c.11012_11013delinsCT | NP_996816.2:p.Pro3671= | |
| NM_206933.3:c.11012_11013delinsCT | NP_996816.2:p.Pro3671= | |
| NM_206933.4:c.11012_11013delinsCT MANE Select | NP_996816.3:p.Pro3671= |