Canonical Allele Identifier: CA979036982
Gene: FA2H HGNC NCBI

Linked Data

dbSNP Id: rs1962976161
gnomAD v3: 16-74774658-A-AGGCGGGCCCCGC
gnomAD v4: 16-74774658-A-AGGCGGGCCCCGC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74774664_74774675dup , CM000678.2:g.74774664_74774675dup GRCh38
NC_000016.9:g.74808562_74808573dup , CM000678.1:g.74808562_74808573dup GRCh37
NC_000016.8:g.73366063_73366074dup NCBI36
NG_017070.1:g.5162_5173dup

Transcript Alleles

HGVS Amino-acid change
ENST00000219368.8:c.86_97dup MANE Select ENSP00000219368.3:p.Arg32_Leu33insArgGlyAlaArg
ENST00000219368.7:c.86_97dup ENSP00000219368.3:p.Arg32_Leu33insArgGlyAlaArg
ENST00000567683.5:c.86_97dup ENSP00000455126.1:p.Arg32_Leu33insArgGlyAlaArg
NM_024306.4:c.86_97dup NP_077282.3:p.Arg32_Leu33insArgGlyAlaArg
XM_011523317.1:c.86_97dup XP_011521619.1:p.Arg32_Leu33insArgGlyAlaArg
XM_011523318.1:c.86_97dup XP_011521620.1:p.Arg32_Leu33insArgGlyAlaArg
XM_011523317.3:c.86_97dup XP_011521619.1:p.Arg32_Leu33insArgGlyAlaArg
NM_024306.5:c.86_97dup MANE Select NP_077282.3:p.Arg32_Leu33insArgGlyAlaArg
Search 100 bp 5'
Search 100 bp 3'