Canonical Allele Identifier: CA2232921830
Gene: FA2H HGNC NCBI

Linked Data

dbSNP Id: rs1961617782
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74713327_74713330del , CM000678.2:g.74713327_74713330del GRCh38
NC_000016.9:g.74747225_74747228del , CM000678.1:g.74747225_74747228del GRCh37
NC_000016.8:g.73304726_73304729del NCBI36
NG_017070.1:g.66503_66506del

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.*861_*864del MANE Select ENSP00000219368.3:n.*861_*864del
ENST00000219368.7:c.*861_*864del ENSP00000219368.3:n.*861_*864del
ENST00000562145.1:n.1701_1704del
NM_024306.4:c.*861_*864del NP_077282.3:n.*861_*864del
XM_011523319.1:c.*861_*864del XP_011521621.1:n.*861_*864del
XM_011523319.2:c.*861_*864del XP_011521621.1:n.*861_*864del
NM_024306.5:c.*861_*864del MANE Select NP_077282.3:n.*861_*864del
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