Canonical Allele Identifier: CA565403893
Gene:

Linked Data

dbSNP Id: rs1387405062
gnomAD v2: 6-8170037-G-GT
gnomAD v3: 6-8169804-G-GT
gnomAD v4: 6-8169804-G-GT

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8169810dup , CM000668.2:g.8169810dup GRCh38
NC_000006.11:g.8170043dup , CM000668.1:g.8170043dup GRCh37
NC_000006.10:g.8115042dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.82+11550dup
XR_926441.1:n.189+1890dup
XR_926442.1:n.82+11550dup
XR_926443.1:n.82+11550dup
XR_001743950.1:n.179+1890dup
XR_926440.2:n.74+11550dup
XR_926441.2:n.179+1890dup
XR_926443.2:n.83+11550dup