Canonical Allele Identifier: CA175670

Gene: DIAPH1

Linked Data

• ClinVar Variation Id: 163077
• ClinVar RCV Id: RCV000150408 ; RCV000279906 ; RCV001518563 ; RCV003430713
• dbSNP Id: rs555848272
• ExAC: 5:140963678 TC / T
• gnomAD v2: 5-140963678-TC-T
• gnomAD v3: 5-141584111-TC-T
• gnomAD v4: 5-141584111-TC-T
• MyVariant Identifiers: chr5:g.140963679del (hg19) ; chr5:g.141584113del (hg38) ; chr5:g.141584112del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141584114del , CM000667.2:g.141584114del	GRCh38
NC_000005.9:g.140963681del , CM000667.1:g.140963681del	GRCh37
NC_000005.8:g.140943865del	NCBI36
NG_011594.1:g.39944del
NG_011594.2:g.39944del

Transcript Alleles

HGVS	Amino-acid change
ENST00000389054.8:c.402+12del MANE Select	ENSP00000373706.4:n.402+12del
ENST00000647330.1:c.237+12del	ENSP00000494308.1:n.237+12del
ENST00000647433.1:c.402+12del	ENSP00000494675.1:n.402+12del
ENST00000253811.10:c.270+12del	ENSP00000253811.7:n.270+12del
ENST00000389054.7:c.402+12del	ENSP00000373706.4:n.402+12del
ENST00000389057.9:c.375+12del	ENSP00000373709.6:n.375+12del
ENST00000398557.8:c.402+12del	ENSP00000381565.5:n.402+12del
ENST00000518047.5:c.375+12del	ENSP00000428268.2:n.375+12del
ENST00000523100.5:c.402+12del	ENSP00000428208.1:n.402+12del
ENST00000524301.1:c.240+12del	ENSP00000430587.1:n.240+12del
NM_001079812.2:c.375+12del	NP_001073280.1:n.375+12del
NM_001314007.1:c.402+12del	NP_001300936.1:n.402+12del
NM_005219.4:c.402+12del	NP_005210.3:n.402+12del
XM_011537572.1:c.366+12del	XP_011535874.1:n.366+12del
XM_011537573.1:c.336+12del	XP_011535875.1:n.336+12del
XM_024454384.1:c.402+12del	XP_024310152.1:n.402+12del
XM_024454385.1:c.375+12del	XP_024310153.1:n.375+12del
XM_024454386.1:c.366+12del	XP_024310154.1:n.366+12del
XM_024454387.1:c.336+12del	XP_024310155.1:n.336+12del
NM_005219.5:c.402+12del MANE Select	NP_005210.3:n.402+12del
NM_001079812.3:c.375+12del	NP_001073280.1:n.375+12del
NM_001314007.2:c.402+12del	NP_001300936.1:n.402+12del