Allele Registry

Canonical Allele Identifier: CA279567

Gene: DIAPH1 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr5:g.141529181del

GRCh37 chr5:g.140908748del

Linked Data - Sequence & Population

gnomAD v4:

chr5-141529180-CA-C

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000201796

ClinVar Variation:

217753

dbSNP:

863225242

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141529183del , CM000667.2:g.141529183del	GRCh38
NC_000005.9:g.140908750del , CM000667.1:g.140908750del	GRCh37
NC_000005.8:g.140888934del	NCBI36
NG_011594.1:g.94875del
NG_011594.2:g.94875del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389054.8:c.2769del MANE Select	ENSP00000373706.4:p.Phe923LeufsTer4
ENST00000647433.1:c.2769del	ENSP00000494675.1:p.Phe923LeufsTer4
ENST00000253811.10:c.2637del	ENSP00000253811.7:p.Phe879LeufsTer4
ENST00000389054.7:c.2769del	ENSP00000373706.4:p.Phe923LeufsTer4
ENST00000389057.9:c.2742del	ENSP00000373709.6:p.Phe914LeufsTer4
ENST00000398557.8:c.2769del	ENSP00000381565.5:p.Phe923LeufsTer4
ENST00000491754.5:n.269del
ENST00000494967.5:n.342del
ENST00000518047.5:c.2742del	ENSP00000428268.2:p.Phe914LeufsTer4
ENST00000518484.1:n.395del
NM_001079812.2:c.2742del	NP_001073280.1:p.Phe914LeufsTer4
NM_001314007.1:c.2769del	NP_001300936.1:p.Phe923LeufsTer4
NM_005219.4:c.2769del	NP_005210.3:p.Phe923LeufsTer4
XM_011537572.1:c.2733del	XP_011535874.1:p.Phe911LeufsTer4
XM_011537573.1:c.2703del	XP_011535875.1:p.Phe901LeufsTer4
XM_024454384.1:c.2769del	XP_024310152.1:p.Phe923LeufsTer4
XM_024454385.1:c.2742del	XP_024310153.1:p.Phe914LeufsTer4
XM_024454386.1:c.2733del	XP_024310154.1:p.Phe911LeufsTer4
XM_024454387.1:c.2703del	XP_024310155.1:p.Phe901LeufsTer4
NM_005219.5:c.2769del MANE Select	NP_005210.3:p.Phe923LeufsTer4
NM_001079812.3:c.2742del	NP_001073280.1:p.Phe914LeufsTer4
NM_001314007.2:c.2769del	NP_001300936.1:p.Phe923LeufsTer4

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