Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88007714_88007715del , CM000666.2:g.88007714_88007715del | GRCh38 |
| NC_000004.11:g.88928866_88928867del , CM000666.1:g.88928866_88928867del | GRCh37 |
| NC_000004.10:g.89147890_89147891del | NCBI36 |
| NG_008604.1:g.5047_5048del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.-20_-19del MANE Select | ENSP00000237596.2:n.-20_-19del | |
| ENST00000237596.6:c.-20_-19del | ENSP00000237596.2:n.-20_-19del | |
| NM_000297.3:c.-20_-19del | NP_000288.1:n.-20_-19del | |
| XM_011532028.1:c.-20_-19del | XP_011530330.1:n.-20_-19del | |
| XR_244632.2:n.76_77del | ||
| NR_156488.1:n.68_69del | ||
| XM_011532028.2:c.-20_-19del | XP_011530330.1:n.-20_-19del | |
| NM_000297.4:c.-20_-19del MANE Select | NP_000288.1:n.-20_-19del | |
| NR_156488.2:n.80_81del |