Canonical Allele Identifier: CA2634286419
Gene: FA2H HGNC NCBI

Linked Data

gnomAD v4: 16-74713408-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74713411del , CM000678.2:g.74713411del GRCh38
NC_000016.9:g.74747309del , CM000678.1:g.74747309del GRCh37
NC_000016.8:g.73304810del NCBI36
NG_017070.1:g.66423del

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.*781del MANE Select ENSP00000219368.3:n.*781del
ENST00000219368.7:c.*781del ENSP00000219368.3:n.*781del
ENST00000562145.1:n.1621del
NM_024306.4:c.*781del NP_077282.3:n.*781del
XM_011523319.1:c.*781del XP_011521621.1:n.*781del
XM_011523319.2:c.*781del XP_011521621.1:n.*781del
NM_024306.5:c.*781del MANE Select NP_077282.3:n.*781del
Search 100 bp 5'
Search 100 bp 3'