Canonical Allele Identifier: CA10646256

Gene: WDR72

Linked Data

• ClinVar Variation Id: 316523
• ClinVar RCV Id: RCV000367805
• dbSNP Id: rs1555402422
• gnomAD v3: 15-53515086-T-TACACAC
• gnomAD v4: 15-53515086-T-TACACAC
• MyVariant Identifiers: chr15:g.53807284_53807289dupACACAC (hg19) ; chr15:g.53807303_53807304insACACAC (hg19) ; chr15:g.53807283_53807284insACACAC (hg19) ; chr15:g.53515087_53515092dupACACAC (hg38) ; chr15:g.53515106_53515107insACACAC (hg38) ; chr15:g.53515086_53515087insACACAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.53515102_53515107dup , CM000677.2:g.53515102_53515107dup	GRCh38
NC_000015.9:g.53807299_53807304dup , CM000677.1:g.53807299_53807304dup	GRCh37
NC_000015.8:g.51594591_51594596dup	NCBI36
NG_017034.2:g.249571_249576dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360509.10:c.*2607_*2612dup MANE Select	ENSP00000353699.5:n.*2607_*2612dup
ENST00000396328.5:c.*2607_*2612dup	ENSP00000379619.1:n.*2607_*2612dup
ENST00000567224.1:n.2982_2987dup
ENST00000614174.4:c.2874_2879dup	ENSP00000477754.1:n.2874_2879dup
NM_001277176.1:c.*2607_*2612dup	NP_001264105.1:n.*2607_*2612dup
NM_182758.3:c.*2607_*2612dup	NP_877435.3:n.*2607_*2612dup
NR_102334.1:n.6156_6161dup
NR_102335.1:n.2982_2987dup
NR_102336.1:n.2959_2964dup
XM_011521433.1:c.*2607_*2612dup	XP_011519735.1:n.*2607_*2612dup
XM_011521434.1:c.*2607_*2612dup	XP_011519736.1:n.*2607_*2612dup
XM_011521435.1:c.*2607_*2612dup	XP_011519737.1:n.*2607_*2612dup
XM_011521436.1:c.*2607_*2612dup	XP_011519738.1:n.*2607_*2612dup
XM_011521437.1:c.*2607_*2612dup	XP_011519739.1:n.*2607_*2612dup
XR_001751551.1:n.1410+199_1410+204dup
XR_001751552.1:n.1489+199_1489+204dup
XR_001751553.1:n.1502+199_1502+204dup
NM_182758.4:c.*2607_*2612dup MANE Select	NP_877435.3:n.*2607_*2612dup
NM_001277176.2:c.*2607_*2612dup	NP_001264105.1:n.*2607_*2612dup
NR_102334.2:n.6156_6161dup
NR_102335.2:n.2982_2987dup