Canonical Allele Identifier:
CA933338567
Gene:
Linked Data
dbSNP Id:
rs2097478809
gnomAD v3:
10-122458404-C-CAGGTTGAAAGCATTACCTCCAGATATGG
gnomAD v4:
10-122458404-C-CAGGTTGAAAGCATTACCTCCAGATATGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122458407_122458434dup , CM000672.2:g.122458407_122458434dup | GRCh38 |
| NC_000010.10:g.124217923_124217950dup , CM000672.1:g.124217923_124217950dup | GRCh37 |
| NC_000010.9:g.124207913_124207940dup | NCBI36 |
| NG_011554.1:g.1883_1910dup | |
| NG_011725.1:g.8745_8772dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_946382.1:n.1827+63_1827+90dup | ||
| XR_946383.1:n.1827+63_1827+90dup | ||
| XR_946384.1:n.1576+63_1576+90dup | ||
| XR_946385.1:n.1827+63_1827+90dup | ||
| XR_946382.2:n.1855+63_1855+90dup | ||
| XR_946383.2:n.1855+63_1855+90dup | ||
| XR_946384.2:n.1580+63_1580+90dup | ||
| XR_946385.2:n.1855+63_1855+90dup |