Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1401366dup , CM000681.2:g.1401366dup | GRCh38 |
| NC_000019.9:g.1401365dup , CM000681.1:g.1401365dup | GRCh37 |
| NC_000019.8:g.1352365dup | NCBI36 |
| NG_009785.1:g.5190dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.113dup MANE Select | ENSP00000252288.1:p.Lys39GlnfsTer? | |
| ENST00000447102.8:c.113dup | ENSP00000403536.2:p.Lys39GlnfsTer? | |
| ENST00000640762.1:c.112+1dup | ||
| ENST00000252288.6:c.113dup | ENSP00000252288.1:p.Lys39GlnfsTer? | |
| ENST00000447102.7:c.113dup | ENSP00000403536.2:p.Lys39GlnfsTer? | |
| NM_000156.5:c.113dup | NP_000147.1:p.Lys39GlnfsTer? | |
| NM_138924.2:c.113dup | NP_620279.1:p.Lys39GlnfsTer? | |
| NM_000156.6:c.113dup MANE Select | NP_000147.1:p.Lys39GlnfsTer? | |
| NM_138924.3:c.113dup | NP_620279.1:p.Lys39GlnfsTer? |