Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88007836_88007837delinsGC , CM000666.2:g.88007836_88007837delinsGC | GRCh38 |
| NC_000004.11:g.88928988_88928989delinsGC , CM000666.1:g.88928988_88928989delinsGC | GRCh37 |
| NC_000004.10:g.89148012_89148013delinsGC | NCBI36 |
| NG_008604.1:g.5169_5170delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.103_104delinsGC MANE Select | ENSP00000237596.2:p.Ala35= | |
| ENST00000237596.6:c.103_104delinsGC | ENSP00000237596.2:p.Ala35= | |
| NM_000297.3:c.103_104delinsGC | NP_000288.1:p.Ala35= | |
| XM_011532028.1:c.103_104delinsGC | XP_011530330.1:p.Ala35= | |
| XR_244632.2:n.198_199delinsGC | ||
| NR_156488.1:n.190_191delinsGC | ||
| XM_011532028.2:c.103_104delinsGC | XP_011530330.1:p.Ala35= | |
| NM_000297.4:c.103_104delinsGC MANE Select | NP_000288.1:p.Ala35= | |
| NR_156488.2:n.202_203delinsGC |