ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130872876_130872916del , CM000671.2:g.130872876_130872916del | GRCh38 |
| NC_000009.11:g.133748263_133748303del , CM000671.1:g.133748263_133748303del | GRCh37 |
| NC_000009.10:g.132738084_132738124del | NCBI36 |
| NG_012034.1:g.163996_164036del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372348.9:c.981_1021del | ENSP00000361423.2:p.Phe330GlyfsTer? | |
| ENST00000318560.6:c.924_964del MANE Select | ENSP00000323315.5:p.Phe311GlyfsTer? | |
| ENST00000372348.7:c.981_1021del | ENSP00000361423.2:p.Phe330GlyfsTer? | |
| ENST00000318560.5:c.924_964del | ENSP00000323315.5:p.Phe311GlyfsTer? | |
| ENST00000372348.6:c.981_1021del | ENSP00000361423.2:p.Phe330GlyfsTer? | |
| NM_005157.5:c.924_964del | NP_005148.2:p.Phe311GlyfsTer? | |
| NM_007313.2:c.981_1021del | NP_009297.2:p.Phe330GlyfsTer? | |
| NM_005157.6:c.924_964del MANE Select | NP_005148.2:p.Phe311GlyfsTer? | |
| NM_007313.3:c.981_1021del | NP_009297.2:p.Phe330GlyfsTer? |