Canonical Allele Identifier: CA305014455
Gene: NFILZ HGNC NCBI

Linked Data

dbSNP Id: rs144771862
gnomAD v2: 19-8789736-TG-T
gnomAD v3: 19-8679472-TG-T
gnomAD v4: 19-8679472-TG-T
MyVariant Identifiers: chr19:g.8789737del (hg19) chr19:g.8679473del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8679477del , CM000681.2:g.8679477del GRCh38
NC_000019.9:g.8789741del , CM000681.1:g.8789741del GRCh37
NC_000019.8:g.8650741del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000570582.4:c.*1842del ENSP00000500121.1:n.*1842del
ENST00000671902.2:c.*1842del ENSP00000500604.1:n.*1842del
ENST00000673603.2:c.*1842del ENSP00000499970.1:n.*1842del
ENST00000691075.1:c.*1842del MANE Select ENSP00000509575.1:n.*1842del
NM_001378599.1:c.*1842del NP_001365528.1:n.*1842del
NM_001378600.1:c.*1842del MANE Select NP_001365529.1:n.*1842del
NM_001378601.1:c.*1842del NP_001365530.1:n.*1842del
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