Canonical Allele Identifier: CA286384323
Community Standard Title: NM_001367624.2(ZNF469):c.8625_8627delinsACG (p.His2876Arg)
Gene: ZNF469 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88436095_88436097delinsACG , CM000678.2:g.88436095_88436097delinsACG GRCh38
NC_000016.9:g.88502503_88502505delinsACG , CM000678.1:g.88502503_88502505delinsACG GRCh37
NC_000016.8:g.87030004_87030006delinsACG NCBI36
NG_012236.2:g.13625_13627delinsACG

Transcript Alleles

HGVS Amino-acid Change
NM_001367624.2:c.8625_8627delinsACG MANE Select NP_001354553.1:p.His2876Arg
ENST00000565624.3:c.8625_8627delinsACG MANE Select ENSP00000456500.2:p.His2876Arg
NM_001127464.2:c.8541_8543delinsACG NP_001120936.2:p.His2848Arg
NM_001367624.1:c.8625_8627delinsACG NP_001354553.1:p.His2876Arg
ENST00000437464.1:c.8541_8543delinsACG ENSP00000402343.1:p.His2848Arg
ENST00000565624.1:c.8625_8627delinsACG ENSP00000456500.1:p.His2876Arg
XM_011523386.1:c.8625_8627delinsACG XP_011521688.1:p.His2876Arg
XM_011523387.1:c.8625_8627delinsACG XP_011521689.1:p.His2876Arg
XM_011523388.1:c.8625_8627delinsACG XP_011521690.1:p.His2876Arg
XM_017023784.1:c.8625_8627delinsACG XP_016879273.1:p.His2876Arg
XM_017023785.1:c.8625_8627delinsACG XP_016879274.1:p.His2876Arg