Canonical Allele Identifier: CA1111331288
Gene: FGF20 HGNC NCBI

Linked Data

dbSNP Id: rs750613452
gnomAD v3: 8-16992603-GTT-G
gnomAD v4: 8-16992603-GTT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.16992613_16992614del , CM000670.2:g.16992613_16992614del GRCh38
NC_000008.10:g.16850122_16850123del , CM000670.1:g.16850122_16850123del GRCh37
NC_000008.9:g.16894493_16894494del NCBI36
NG_015978.1:g.14561_14562del

Transcript Alleles

HGVS Amino-acid Change
ENST00000180166.6:c.*467_*468del MANE Select ENSP00000180166.5:n.*467_*468del
ENST00000180166.5:c.*467_*468del ENSP00000180166.5:n.*467_*468del
NM_019851.3:c.*467_*468del MANE Select NP_062825.1:n.*467_*468del
Search 100 bp 5'
Search 100 bp 3'