Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714294_6714295delinsCT , CM000681.2:g.6714294_6714295delinsCT | GRCh38 |
| NC_000019.9:g.6714305_6714306delinsCT , CM000681.1:g.6714305_6714306delinsCT | GRCh37 |
| NC_000019.8:g.6665305_6665306delinsCT | NCBI36 |
| NG_009557.1:g.11357_11358delinsAG , LRG_27:g.11357_11358delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.477-47_477-46delinsAG | ENSP00000512083.1:n.477-47_477-46delinsAG | |
| ENST00000245907.11:c.600-47_600-46delinsAG MANE Select | ENSP00000245907.4:n.600-47_600-46delinsAG | |
| ENST00000245907.10:c.600-47_600-46delinsAG | ENSP00000245907.4:n.600-47_600-46delinsAG | |
| ENST00000595577.1:n.57_58delinsAG | ||
| NM_000064.3:c.600-47_600-46delinsAG | NP_000055.2:n.600-47_600-46delinsAG | |
| NM_000064.4:c.600-47_600-46delinsAG MANE Select | NP_000055.2:n.600-47_600-46delinsAG |