Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31659867_31659868dup , CM000683.2:g.31659867_31659868dup | GRCh38 |
| NC_000021.8:g.33032180_33032181dup , CM000683.1:g.33032180_33032181dup | GRCh37 |
| NC_000021.7:g.31954051_31954052dup | NCBI36 |
| NG_008689.1:g.5246_5247dup , LRG_652:g.5246_5247dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.72+26_72+27dup MANE Select | ENSP00000270142.7:n.72+26_72+27dup | |
| ENST00000270142.10:c.72+26_72+27dup | ENSP00000270142.6:n.72+26_72+27dup | |
| ENST00000389995.4:c.15+83_15+84dup | ENSP00000374645.4:n.15+83_15+84dup | |
| ENST00000470944.1:n.159_160dup | ||
| ENST00000476106.5:n.149+26_149+27dup | ||
| NM_000454.4:c.72+26_72+27dup , LRG_652t1:c.72+26_72+27dup | NP_000445.1:n.72+26_72+27dup | |
| NM_000454.5:c.72+26_72+27dup MANE Select | NP_000445.1:n.72+26_72+27dup |