Canonical Allele Identifier: CA69856224
Gene: CAV3 HGNC NCBI
OXTR HGNC NCBI

Linked Data

dbSNP Id: rs747848144
gnomAD v2: 3-8813115-CAG-C
gnomAD v3: 3-8771429-CAG-C
gnomAD v4: 3-8771429-CAG-C
MyVariant Identifiers: chr3:g.8813116_8813117del (hg19) chr3:g.8771430_8771431del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8771434_8771435del , CM000665.2:g.8771434_8771435del GRCh38
NC_000003.11:g.8813120_8813121del , CM000665.1:g.8813120_8813121del GRCh37
NC_000003.10:g.8788120_8788121del NCBI36
NG_008797.2:g.42625_42626del , LRG_329:g.42625_42626del

Transcript Alleles

HGVS Amino-acid Change
ENST00000472766.1:n.156-6043_156-6042del (CAV3)
XM_011533763.1:c.-238-2840_-238-2839del (OXTR) XP_011532065.1:n.-238-2840_-238-2839del
Search 100 bp 5'
Search 100 bp 3'