Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48965333_48965338del , CM000681.2:g.48965333_48965338del | GRCh38 |
| NC_000019.9:g.49468590_49468595del , CM000681.1:g.49468590_49468595del | GRCh37 |
| NC_000019.8:g.54160402_54160407del | NCBI36 |
| NG_008152.1:g.5025_5030del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000331825.11:c.-175_-170del MANE Select | ENSP00000366525.2:n.-175_-170del | |
| ENST00000331825.10:c.-175_-170del | ENSP00000366525.2:n.-175_-170del | |
| ENST00000622577.2:c.-175_-170del | ENSP00000484043.1:n.-175_-170del | |
| NM_000146.3:c.-175_-170del | NP_000137.2:n.-175_-170del | |
| XM_024451447.1:c.336_341del | XP_024307215.1:p.Ser113_Leu114del | |
| NM_000146.4:c.-175_-170del MANE Select | NP_000137.2:n.-175_-170del |