Canonical Allele Identifier:
CA993151679
Gene:
Linked Data
dbSNP Id:
rs2022507556
gnomAD v3:
19-7522579-C-CGGTCACGTGAGGGGCTCTGGGCTACCG
gnomAD v4:
19-7522579-C-CGGTCACGTGAGGGGCTCTGGGCTACCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7522590_7522616dup , CM000681.2:g.7522590_7522616dup | GRCh38 |
| NC_000019.9:g.7587476_7587502dup , CM000681.1:g.7587476_7587502dup | GRCh37 |
| NC_000019.8:g.7493476_7493502dup | NCBI36 |
| NG_015806.1:g.4981_5007dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_936293.1:n.926+236_926+262dup | ||
| XR_936294.1:n.926+236_926+262dup | ||
| XR_936295.1:n.570+236_570+262dup | ||
| XR_936293.2:n.952+236_952+262dup | ||
| XR_936294.2:n.952+236_952+262dup |