Canonical Allele Identifier: CA2634286351
Gene: FA2H HGNC NCBI

Linked Data

gnomAD v4: 16-74713372-GA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74713373del , CM000678.2:g.74713373del GRCh38
NC_000016.9:g.74747271del , CM000678.1:g.74747271del GRCh37
NC_000016.8:g.73304772del NCBI36
NG_017070.1:g.66459del

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.*817del MANE Select ENSP00000219368.3:n.*817del
ENST00000219368.7:c.*817del ENSP00000219368.3:n.*817del
ENST00000562145.1:n.1657del
NM_024306.4:c.*817del NP_077282.3:n.*817del
XM_011523319.1:c.*817del XP_011521621.1:n.*817del
XM_011523319.2:c.*817del XP_011521621.1:n.*817del
NM_024306.5:c.*817del MANE Select NP_077282.3:n.*817del
Search 100 bp 5'
Search 100 bp 3'