Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188997305_188997307del , CM000664.2:g.188997305_188997307del | GRCh38 |
| NC_000002.11:g.189862031_189862033del , CM000664.1:g.189862031_189862033del | GRCh37 |
| NC_000002.10:g.189570276_189570278del | NCBI36 |
| NG_007404.1:g.27933_27935del , LRG_3:g.27933_27935del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.1717-31_1717-29del | ENSP00000415346.2:n.1717-31_1717-29del | |
| ENST00000304636.9:c.1816-31_1816-29del MANE Select | ENSP00000304408.4:n.1816-31_1816-29del | |
| ENST00000304636.7:c.1816-31_1816-29del | ENSP00000304408.3:n.1816-31_1816-29del | |
| ENST00000317840.9:c.1816-31_1816-29del | ENSP00000315243.6:n.1816-31_1816-29del | |
| NM_000090.3:c.1816-31_1816-29del , LRG_3t1:c.1816-31_1816-29del | NP_000081.1:n.1816-31_1816-29del | |
| NM_000090.4:c.1816-31_1816-29del MANE Select | NP_000081.2:n.1816-31_1816-29del |