Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114659_140114661del , CM000667.2:g.140114659_140114661del | GRCh38 |
| NC_000005.9:g.139494244_139494246del , CM000667.1:g.139494244_139494246del | GRCh37 |
| NC_000005.8:g.139474428_139474430del | NCBI36 |
| NG_041813.1:g.5537_5539del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331327.5:c.478_480del MANE Select | ENSP00000332706.3:p.Lys160del | |
| ENST00000651386.1:c.478_480del | ENSP00000499133.1:p.Lys160del | |
| ENST00000331327.4:c.478_480del | ENSP00000332706.3:p.Lys160del | |
| NM_005859.4:c.478_480del | NP_005850.1:p.Lys160del | |
| NM_005859.5:c.478_480del MANE Select | NP_005850.1:p.Lys160del |