Canonical Allele Identifier: CA828661967
Gene:

Linked Data

dbSNP Id: rs1430577382
gnomAD v3: 6-8169803-T-TG
gnomAD v4: 6-8169803-T-TG

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.8169804dup , CM000668.2:g.8169804dup GRCh38
NC_000006.11:g.8170037dup , CM000668.1:g.8170037dup GRCh37
NC_000006.10:g.8115036dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_926440.1:n.82+11544dup
XR_926441.1:n.189+1884dup
XR_926442.1:n.82+11544dup
XR_926443.1:n.82+11544dup
XR_001743950.1:n.179+1884dup
XR_926440.2:n.74+11544dup
XR_926441.2:n.179+1884dup
XR_926443.2:n.83+11544dup