Canonical Allele Identifier: CA2232921998
Gene: FA2H HGNC NCBI

Linked Data

dbSNP Id: rs1961624032

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74713605_74713607del , CM000678.2:g.74713605_74713607del GRCh38
NC_000016.9:g.74747503_74747505del , CM000678.1:g.74747503_74747505del GRCh37
NC_000016.8:g.73305004_73305006del NCBI36
NG_017070.1:g.66228_66230del

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.*586_*588del MANE Select ENSP00000219368.3:n.*586_*588del
ENST00000219368.7:c.*586_*588del ENSP00000219368.3:n.*586_*588del
ENST00000562145.1:n.1426_1428del
ENST00000567683.5:c.*984_*986del ENSP00000455126.1:n.*984_*986del
NM_024306.4:c.*586_*588del NP_077282.3:n.*586_*588del
XM_011523319.1:c.*586_*588del XP_011521621.1:n.*586_*588del
XM_011523319.2:c.*586_*588del XP_011521621.1:n.*586_*588del
NM_024306.5:c.*586_*588del MANE Select NP_077282.3:n.*586_*588del