ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32896719del , CM000674.2:g.32896719del | GRCh38 |
| NC_000012.11:g.33049653del , CM000674.1:g.33049653del | GRCh37 |
| NC_000012.10:g.32940920del | NCBI36 |
| NG_009000.1:g.5129del , LRG_398:g.5129del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546741.3:c.14del | ENSP00000481383.2:p.Gly5AlafsTer? | |
| ENST00000700559.2:c.14del | ENSP00000515065.2:p.Gly5AlafsTer? | |
| ENST00000700563.2:c.14del | ENSP00000515066.2:p.Gly5AlafsTer? | |
| ENST00000700564.1:n.18del | ||
| ENST00000070846.11:c.14del | ENSP00000070846.6:p.Gly5AlafsTer? | |
| ENST00000340811.9:c.14del MANE Select | ENSP00000342800.5:p.Gly5AlafsTer? | |
| ENST00000070846.10:c.14del | ENSP00000070846.6:p.Gly5AlafsTer? | |
| ENST00000340811.8:c.14del | ENSP00000342800.4:p.Gly5AlafsTer? | |
| ENST00000613243.1:c.14del | ENSP00000478295.1:p.Gly5AlafsTer? | |
| NM_001005242.2:c.14del | NP_001005242.2:p.Gly5AlafsTer? | |
| NM_004572.3:c.14del , LRG_398t1:c.14del | NP_004563.2:p.Gly5AlafsTer? | |
| NM_001005242.3:c.14del MANE Select | NP_001005242.2:p.Gly5AlafsTer? | |
| NM_004572.4:c.14del | NP_004563.2:p.Gly5AlafsTer? |