Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159328900del , CM000667.2:g.159328900del | GRCh38 |
| NC_000005.9:g.158755908del , CM000667.1:g.158755908del | GRCh37 |
| NC_000005.8:g.158688486del | NCBI36 |
| NG_009618.1:g.6575del , LRG_71:g.6575del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696750.1:c.-149+1533del | ENSP00000512849.1:n.-149+1533del | |
| ENST00000696751.1:c.-1+1533del | ENSP00000512850.1:n.-1+1533del | |
| ENST00000696752.1:n.432+1533del | ||
| ENST00000231228.3:c.-1+1533del MANE Select | ENSP00000231228.2:n.-1+1533del | |
| ENST00000231228.2:c.-1+1533del | ENSP00000231228.2:n.-1+1533del | |
| NM_002187.2:c.-1+1533del , LRG_71t1:c.-1+1533del | NP_002178.2:n.-1+1533del | |
| NM_002187.3:c.-1+1533del MANE Select | NP_002178.2:n.-1+1533del |