Linked Data
dbSNP Id:
rs1566086663
gnomAD v2:
13-39903275-A-AACACATCGATAAGCCAACTG
gnomAD v3:
13-39329138-A-AACACATCGATAAGCCAACTG
gnomAD v4:
13-39329138-A-AACACATCGATAAGCCAACTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.39329140_39329159dup , CM000675.2:g.39329140_39329159dup | GRCh38 |
| NC_000013.10:g.39903277_39903296dup , CM000675.1:g.39903277_39903296dup | GRCh37 |
| NC_000013.9:g.38801277_38801296dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648377.1:c.*82+14696_*82+14715dup | ENSP00000496801.1:n.*82+14696_*82+14715dup | |
| XR_001749845.1:n.1449+7113_1449+7132dup |