Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47339640_47339664del , CM000673.2:g.47339640_47339664del | GRCh38 |
| NC_000011.9:g.47361191_47361215del , CM000673.1:g.47361191_47361215del | GRCh37 |
| NC_000011.8:g.47317767_47317791del | NCBI36 |
| NG_007667.1:g.18039_18063del , LRG_386:g.18039_18063del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.2054_2067+11del | ||
| ENST00000256993.8:c.2054_2067+11del | ||
| ENST00000399249.6:c.2054_2067+11del | ||
| ENST00000544791.1:c.2054_2067+11del | ||
| ENST00000545968.5:c.2054_2067+11del | ||
| NM_000256.3:c.2054_2067+11del , LRG_386t1:c.2054_2067+11del | ||
| XM_011520117.1:c.2036_2049+11del | ||
| XM_011520118.1:c.2054_2067+11del |