Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99352951_99352952del , CM000666.2:g.99352951_99352952del | GRCh38 |
| NC_000004.11:g.100274108_100274109del , CM000666.1:g.100274108_100274109del | GRCh37 |
| NC_000004.10:g.100493131_100493132del | NCBI36 |
| NG_011718.1:g.4809_4810del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515683.5:c.-277_-276del | ENSP00000426083.1:n.-277_-276del | |
| NM_000669.4:c.-277_-276del | NP_000660.1:n.-277_-276del | |
| NR_133005.1:n.94_95del | ||
| XM_011531588.1:c.-277_-276del | XP_011529890.1:n.-277_-276del | |
| XM_011531589.1:c.-517_-516del | XP_011529891.1:n.-517_-516del |