Canonical Allele Identifier:
CA2632821144
Gene:
Linked Data
gnomAD v4:
16-31090816-C-CGTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31090816_31090817insGTG , CM000678.2:g.31090816_31090817insGTG | GRCh38 |
| NC_000016.9:g.31102137_31102138insGTG , CM000678.1:g.31102137_31102138insGTG | GRCh37 |
| NC_000016.8:g.31009638_31009639insGTG | NCBI36 |
| NG_011564.1:g.9139_9140insCAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529564.1:c.283+2495_283+2496insCAC | ENSP00000431371.1:n.283+2495_283+2496insCAC | |
| ENST00000532364.1:c.173+3740_173+3741insCAC | ENSP00000460316.1:n.173+3740_173+3741insCAC | |
| ENST00000533518.5:c.407+275_407+276insCAC |