Canonical Allele Identifier: CA8224665

Gene: ZNF469

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88428641_88428645del , CM000678.2:g.88428641_88428645del	GRCh38
NC_000016.9:g.88495049_88495053del , CM000678.1:g.88495049_88495053del	GRCh37
NC_000016.8:g.87022550_87022554del	NCBI36
NG_012236.2:g.6171_6175del

Transcript Alleles

HGVS	Amino-acid Change
NM_001367624.2:c.1171_1175del MANE Select	NP_001354553.1:p.Leu391GlufsTer7
ENST00000565624.3:c.1171_1175del MANE Select	ENSP00000456500.2:p.Leu391GlufsTer7
NM_001127464.2:c.1171_1175del	NP_001120936.2:p.Leu391GlufsTer7
NM_001367624.1:c.1171_1175del	NP_001354553.1:p.Leu391GlufsTer7
ENST00000437464.1:c.1171_1175del	ENSP00000402343.1:p.Leu391GlufsTer7
ENST00000565624.1:c.1171_1175del	ENSP00000456500.1:p.Leu391GlufsTer7
XM_011523386.1:c.1171_1175del	XP_011521688.1:p.Leu391GlufsTer7
XM_011523387.1:c.1171_1175del	XP_011521689.1:p.Leu391GlufsTer7
XM_011523388.1:c.1171_1175del	XP_011521690.1:p.Leu391GlufsTer7
XM_017023784.1:c.1171_1175del	XP_016879273.1:p.Leu391GlufsTer7
XM_017023785.1:c.1171_1175del	XP_016879274.1:p.Leu391GlufsTer7
XR_002957934.1:n.250+1323_250+1327del