Canonical Allele Identifier: CA723843140
Gene: FA2H HGNC NCBI

Linked Data

dbSNP Id: rs1425814446
gnomAD v3: 16-74713369-GGGGAGGTGAGGCACT-G
gnomAD v4: 16-74713369-GGGGAGGTGAGGCACT-G
MyVariant Identifiers: chr16:g.74747268_74747282del (hg19) chr16:g.74713370_74713384del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74713371_74713385del , CM000678.2:g.74713371_74713385del GRCh38
NC_000016.9:g.74747269_74747283del , CM000678.1:g.74747269_74747283del GRCh37
NC_000016.8:g.73304770_73304784del NCBI36
NG_017070.1:g.66448_66462del

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.*806_*820del MANE Select ENSP00000219368.3:n.*806_*820del
ENST00000219368.7:c.*806_*820del ENSP00000219368.3:n.*806_*820del
ENST00000562145.1:n.1646_1660del
NM_024306.4:c.*806_*820del NP_077282.3:n.*806_*820del
XM_011523319.1:c.*806_*820del XP_011521621.1:n.*806_*820del
XM_011523319.2:c.*806_*820del XP_011521621.1:n.*806_*820del
NM_024306.5:c.*806_*820del MANE Select NP_077282.3:n.*806_*820del
Search 100 bp 5'
Search 100 bp 3'