Canonical Allele Identifier: CA629855472
Gene:

Linked Data

dbSNP Id: rs1191536043
gnomAD v2: 18-47172216-G-GTAGGTCACAAGGAGGGGAAT
gnomAD v3: 18-49645846-G-GTAGGTCACAAGGAGGGGAAT
gnomAD v4: 18-49645846-G-GTAGGTCACAAGGAGGGGAAT
MyVariant Identifiers: chr18:g.47172216_47172217insTAGGTCACAAGGAGGGGAAT (hg19) chr18:g.49645846_49645847insTAGGTCACAAGGAGGGGAAT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.49645854_49645873dup , CM000680.2:g.49645854_49645873dup GRCh38
NC_000018.9:g.47172224_47172243dup , CM000680.1:g.47172224_47172243dup GRCh37
NC_000018.8:g.45426222_45426241dup NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_935461.1:n.162-16180_162-16161dup
XR_001753446.1:n.898-16180_898-16161dup
Search 100 bp 5'
Search 100 bp 3'