ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104034051del , CM000672.2:g.104034051del | GRCh38 |
| NC_000010.10:g.105793809del , CM000672.1:g.105793809del | GRCh37 |
| NC_000010.9:g.105783799del | NCBI36 |
| NG_007069.1:g.56830del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369733.8:c.3804del | ENSP00000358748.3:p.Ala1269GlnfsTer28 | |
| ENST00000647647.1:c.80del | ||
| ENST00000648076.2:c.4050del MANE Select | ENSP00000497653.1:p.Ala1351GlnfsTer28 | |
| ENST00000353479.9:c.4050del | ENSP00000340937.5:p.Ala1351GlnfsTer28 | |
| ENST00000369733.7:c.3804del | ENSP00000358748.3:p.Ala1269GlnfsTer28 | |
| NM_000494.3:c.4050del | NP_000485.3:p.Ala1351GlnfsTer28 | |
| NM_000494.4:c.4050del MANE Select | NP_000485.3:p.Ala1351GlnfsTer28 |