Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135859085_135859086del , CM000664.2:g.135859085_135859086del | GRCh38 |
| NC_000002.11:g.136616655_136616656del , CM000664.1:g.136616655_136616656del | GRCh37 |
| NC_000002.10:g.136333125_136333126del | NCBI36 |
| NG_008104.2:g.1084_1085del , LRG_338:g.1084_1085del | |
| NG_008958.1:g.22356_22357del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264156.3:c.1362+215_1362+216del MANE Select | ENSP00000264156.2:n.1362+215_1362+216del | |
| ENST00000264156.2:c.1362+215_1362+216del | ENSP00000264156.2:n.1362+215_1362+216del | |
| ENST00000492091.1:n.181+3521_181+3522del | ||
| NM_005915.5:c.1362+215_1362+216del | NP_005906.2:n.1362+215_1362+216del | |
| NM_005915.6:c.1362+215_1362+216del MANE Select | NP_005906.2:n.1362+215_1362+216del |