Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129061508del , CM000665.2:g.129061508del | GRCh38 |
| NC_000003.11:g.128780351del , CM000665.1:g.128780351del | GRCh37 |
| NC_000003.10:g.130263041del | NCBI36 |
| NG_008715.1:g.5707del , LRG_477:g.5707del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307395.5:c.-124del MANE Select | ENSP00000303942.4:n.-124del | |
| ENST00000307395.4:c.-124del | ENSP00000303942.4:n.-124del | |
| NM_000174.4:c.-124del , LRG_477t1:c.-124del | NP_000165.1:n.-124del | |
| XM_005247374.3:c.-124del | XP_005247431.1:n.-124del | |
| XM_011512701.1:c.-124del | XP_011511003.1:n.-124del | |
| XM_011512702.1:c.-12-220del | XP_011511004.1:n.-12-220del | |
| NM_000174.5:c.-124del MANE Select | NP_000165.1:n.-124del |