Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.20005747del , CM000664.2:g.20005747del | GRCh38 |
| NC_000002.11:g.20205508del , CM000664.1:g.20205508del | GRCh37 |
| NC_000002.10:g.20068989del | NCBI36 |
| NG_008087.1:g.11948del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407540.8:c.787del MANE Select | ENSP00000383894.3:p.Cys263ValfsTer? | |
| ENST00000407540.7:c.787del | ENSP00000383894.3:p.Cys263ValfsTer? | |
| ENST00000421259.2:c.787del | ENSP00000398753.2:p.Cys263ValfsTer18 | |
| NM_002381.4:c.787del | NP_002372.1:p.Cys263ValfsTer? | |
| NM_002381.5:c.787del MANE Select | NP_002372.1:p.Cys263ValfsTer? |