Canonical Allele Identifier: CA723843296
Gene: FA2H HGNC NCBI

Linked Data

dbSNP Id: rs1289909127
MyVariant Identifiers: chr16:g.74747476del (hg19) chr16:g.74713578del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74713578del , CM000678.2:g.74713578del GRCh38
NC_000016.9:g.74747476del , CM000678.1:g.74747476del GRCh37
NC_000016.8:g.73304977del NCBI36
NG_017070.1:g.66254del

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.*612del MANE Select ENSP00000219368.3:n.*612del
ENST00000219368.7:c.*612del ENSP00000219368.3:n.*612del
ENST00000562145.1:n.1452del
NM_024306.4:c.*612del NP_077282.3:n.*612del
XM_011523319.1:c.*612del XP_011521621.1:n.*612del
XM_011523319.2:c.*612del XP_011521621.1:n.*612del
NM_024306.5:c.*612del MANE Select NP_077282.3:n.*612del
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