Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21600091_21600092delinsCA , CM000669.2:g.21600091_21600092delinsCA | GRCh38 |
| NC_000007.13:g.21639709_21639710delinsCA , CM000669.1:g.21639709_21639710delinsCA | GRCh37 |
| NC_000007.12:g.21606234_21606235delinsCA | NCBI36 |
| NG_012886.2:g.61877_61878delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.2972_2973delinsCA MANE Select | ENSP00000475939.1:p.Ala991= | |
| ENST00000328843.10:c.2972_2973delinsCA | ENSP00000330671.7:p.Ala991= | |
| ENST00000409508.7:c.2972_2973delinsCA | ENSP00000475939.1:p.Ala991= | |
| ENST00000620169.4:c.2972_2973delinsCA | ENSP00000481693.1:p.Ala991= | |
| NM_001277115.1:c.2972_2973delinsCA | NP_001264044.1:p.Ala991= | |
| NM_001277115.2:c.2972_2973delinsCA MANE Select | NP_001264044.1:p.Ala991= |