Canonical Allele Identifier:
CA1138937933
Gene:
Linked Data
dbSNP Id:
rs1370248454
gnomAD v3:
Y-8707915-A-ATTTTTTTT
gnomAD v4:
Y-8707915-A-ATTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.8707936_8707943dup , CM000686.2:g.8707936_8707943dup | GRCh38 |
| NC_000024.9:g.8575977_8575984dup , CM000686.1:g.8575977_8575984dup | GRCh37 |
| NC_000024.8:g.8635977_8635984dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000623558.1:c.139+8904_139+8911dup | ENSP00000485446.1:n.139+8904_139+8911dup | |
| ENST00000624593.1:c.-57+40793_-57+40800dup | ENSP00000485106.1:n.-57+40793_-57+40800du... |