Canonical Allele Identifier: CA8620638
Gene: WNT3 HGNC NCBI
LRRC37A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 515621
ClinVar RCV Id: RCV000614235 RCV002064320
dbSNP Id: rs778923631
ExAC: 17:44851015 CT / C
gnomAD v2: 17-44851015-CT-C
gnomAD v3: 17-46773649-CT-C
gnomAD v4: 17-46773649-CT-C
MyVariant Identifiers: chr17:g.44851016del (hg19) chr17:g.44851016_44851019delinsCAG (hg19) chr17:g.46773650del (hg38) chr17:g.46773650_46773653delinsCAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.46773650del , CM000679.2:g.46773650del GRCh38
NC_000017.10:g.44851016del , CM000679.1:g.44851016del GRCh37
NC_000017.9:g.42206179del NCBI36
NG_008084.2:g.50067del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706495.1:c.127+18del (WNT3) ENSP00000516418.1:n.127+18del
ENST00000225512.6:c.322+18del (WNT3) MANE Select ENSP00000225512.5:n.322+18del
ENST00000225512.5:c.322+18del (WNT3) ENSP00000225512.5:n.322+18del
NM_030753.4:c.322+18del (WNT3) NP_110380.1:n.322+18del
XM_024450773.1:c.4809+223131del (LRRC37A2) XP_024306541.1:n.4809+223131del
NM_030753.5:c.322+18del (WNT3) MANE Select NP_110380.1:n.322+18del
Search 100 bp 5'
Search 100 bp 3'