Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150860518_150860519del , CM000667.2:g.150860518_150860519del | GRCh38 |
| NC_000005.9:g.150240080_150240081del , CM000667.1:g.150240080_150240081del | GRCh37 |
| NC_000005.8:g.150220273_150220274del | NCBI36 |
| NG_027809.2:g.18996_18997del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000520549.1:c.158+11864_158+11865del | ||
| XM_011537641.1:c.531+11864_531+11865del | XP_011535943.1:n.531+11864_531+11865del | |
| NM_001346557.1:c.531+11864_531+11865del | NP_001333486.1:n.531+11864_531+11865del | |
| NM_001346557.2:c.531+11864_531+11865del | NP_001333486.1:n.531+11864_531+11865del | |
| NR_170598.1:n.1646+11864_1646+11865del |