Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40099258_40099271delinsGGCCACCAGGTCGT , CM000679.2:g.40099258_40099271delinsGGCCACCAGGTCGT | GRCh38 |
| NC_000017.10:g.38255511_38255524delinsGGCCACCAGGTCGT , CM000679.1:g.38255511_38255524delinsGGCCACCAGGTCGT | GRCh37 |
| NC_000017.9:g.35509037_35509050delinsGGCCACCAGGTCGT | NCBI36 |
| NG_033084.1:g.6455_6468delinsACGACCTGGTGGCC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000246672.4:c.31+793_31+806delinsACGACCTGGTGGCC MANE Select | ENSP00000246672.3:n.31+793_31+806delinsAC... | |
| ENST00000246672.3:c.31+793_31+806delinsACGACCTGGTGGCC | ENSP00000246672.3:n.31+793_31+806delinsAC... | |
| NM_021724.4:c.31+793_31+806delinsACGACCTGGTGGCC | NP_068370.1:n.31+793_31+806delinsACGACCTG... | |
| NM_021724.5:c.31+793_31+806delinsACGACCTGGTGGCC MANE Select | NP_068370.1:n.31+793_31+806delinsACGACCTG... |