Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.23393487_23393490del , CM000685.2:g.23393487_23393490del | GRCh38 |
| NC_000023.10:g.23411604_23411607del , CM000685.1:g.23411604_23411607del | GRCh37 |
| NC_000023.9:g.23321525_23321528del | NCBI36 |
| NG_021300.1:g.63620_63623del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379361.5:c.1969_1972del MANE Select | ENSP00000368666.4:p.Asn657GlufsTer11 | |
| ENST00000379361.4:c.1969_1972del | ENSP00000368666.4:p.Asn657GlufsTer11 | |
| NM_173495.2:c.1969_1972del | NP_775766.2:p.Asn657GlufsTer11 | |
| XM_011545449.1:c.1969_1972del | XP_011543751.1:p.Asn657GlufsTer11 | |
| XM_011545449.3:c.1969_1972del | XP_011543751.1:p.Asn657GlufsTer11 | |
| NM_173495.3:c.1969_1972del MANE Select | NP_775766.2:p.Asn657GlufsTer11 |