Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97854444_97854445insAGCCGCCGCCGCCGCCGCCGC , CM000671.2:g.97854444_97854445insAGCCGCCGCCGCCGCCGCCGC | GRCh38 |
| NC_000009.11:g.100616726_100616727insAGCCGCCGCCGCCGCCGCCGC , CM000671.1:g.100616726_100616727insAGCCGCCGCCGCCGCCGCCGC | GRCh37 |
| NC_000009.10:g.99656547_99656548insAGCCGCCGCCGCCGCCGCCGC | NCBI36 |
| NG_011979.1:g.6190_6191insAGCCGCCGCCGCCGCCGCCGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375123.5:c.530_531insAGCCGCCGCCGCCGCCGCCGC MANE Select | ENSP00000364265.3:p.Ala177_Ala178insAlaAlaAlaAlaAlaAlaAla | |
| ENST00000375123.4:c.530_531insAGCCGCCGCCGCCGCCGCCGC | ENSP00000364265.3:p.Ala177_Ala178insAlaAlaAlaAlaAlaAlaAla | |
| NM_004473.3:c.530_531insAGCCGCCGCCGCCGCCGCCGC | NP_004464.2:p.Ala177_Ala178insAlaAlaAlaAlaAlaAlaAla | |
| NM_004473.4:c.530_531insAGCCGCCGCCGCCGCCGCCGC MANE Select | NP_004464.2:p.Ala177_Ala178insAlaAlaAlaAlaAlaAlaAla |