Canonical Allele Identifier: CA1118845362
Gene:

Linked Data

dbSNP Id: rs1812784448
gnomAD v3: 8-125478764-T-TG
gnomAD v4: 8-125478764-T-TG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125478764_125478765insG , CM000670.2:g.125478764_125478765insG GRCh38
NC_000008.10:g.126491006_126491007insG , CM000670.1:g.126491006_126491007insG GRCh37
NC_000008.9:g.126560188_126560189insG NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928628.1:n.256+5450_256+5451insG
Search 100 bp 5'
Search 100 bp 3'