Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189006228_189006230del , CM000664.2:g.189006228_189006230del | GRCh38 |
| NC_000002.11:g.189870954_189870956del , CM000664.1:g.189870954_189870956del | GRCh37 |
| NC_000002.10:g.189579199_189579201del | NCBI36 |
| NG_007404.1:g.36856_36858del , LRG_3:g.36856_36858del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000090.4:c.3062_3064del MANE Select | NP_000081.2:p.Leu1021del |
| ENST00000304636.9:c.3062_3064del MANE Select | ENSP00000304408.4:p.Leu1021del |
| NM_000090.3:c.3062_3064del , LRG_3t1:c.3062_3064del | NP_000081.1:p.Leu1021del |
| ENST00000304636.7:c.3062_3064del | ENSP00000304408.3:p.Leu1021del |
| ENST00000317840.9:c.2528-1826_2528-1824del | ENSP00000315243.6:n.2528-1826_2528-1824del |
| ENST00000450867.2:c.2963_2965del | ENSP00000415346.2:p.Leu988del |