Canonical Allele Identifier:
CA977151072
Gene:
Linked Data
gnomAD v3:
16-49108746-T-TGTTTCCTGTTAAGATGCCTTTTCC
gnomAD v4:
16-49108746-T-TGTTTCCTGTTAAGATGCCTTTTCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.49108748_49108771dup , CM000678.2:g.49108748_49108771dup | GRCh38 |
| NC_000016.9:g.49142659_49142682dup , CM000678.1:g.49142659_49142682dup | GRCh37 |
| NC_000016.8:g.47700160_47700183dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_933517.1:n.810+1174_810+1197dup | ||
| XR_001752138.2:n.591+5206_591+5229dup | ||
| XR_933517.2:n.810+1174_810+1197dup |