Canonical Allele Identifier: CA10583428
Gene: FA2H HGNC NCBI

Linked Data

ClinVar Variation Id: 241465
ClinVar RCV Id: RCV000233207
dbSNP Id: rs878855082
gnomAD v2: 16-74808576-CCAG-C
gnomAD v3: 16-74774678-CCAG-C
gnomAD v4: 16-74774678-CCAG-C
MyVariant Identifiers: chr16:g.74808577_74808579del (hg19) chr16:g.74774679_74774681del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74774681_74774683del , CM000678.2:g.74774681_74774683del GRCh38
NC_000016.9:g.74808579_74808581del , CM000678.1:g.74808579_74808581del GRCh37
NC_000016.8:g.73366080_73366082del NCBI36
NG_017070.1:g.5151_5153del

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.75_77del MANE Select ENSP00000219368.3:p.Cys25del
ENST00000219368.7:c.75_77del ENSP00000219368.3:p.Cys25del
ENST00000567683.5:c.75_77del ENSP00000455126.1:p.Cys25del
NM_024306.4:c.75_77del NP_077282.3:p.Cys25del
XM_011523317.1:c.75_77del XP_011521619.1:p.Cys25del
XM_011523318.1:c.75_77del XP_011521620.1:p.Cys25del
XM_011523317.3:c.75_77del XP_011521619.1:p.Cys25del
NM_024306.5:c.75_77del MANE Select NP_077282.3:p.Cys25del
Search 100 bp 5'
Search 100 bp 3'