Canonical Allele Identifier: CA540835409

Gene: OXTR CAV3

Linked Data

• dbSNP Id: rs202010724
• gnomAD v2: 3-8803014-G-GGTGT
• gnomAD v3: 3-8761328-G-GGTGT
• gnomAD v4: 3-8761328-G-GGTGT
• MyVariant Identifiers: chr3:g.8803016_8803017insGTGT (hg19) ; chr3:g.8803014_8803015insGTGT (hg19) ; chr3:g.8761330_8761331insGTGT (hg38) ; chr3:g.8761328_8761329insGTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8761339_8761342dup , CM000665.2:g.8761339_8761342dup	GRCh38
NC_000003.11:g.8803025_8803028dup , CM000665.1:g.8803025_8803028dup	GRCh37
NC_000003.10:g.8778025_8778028dup	NCBI36
NG_008797.2:g.32530_32533dup , LRG_329:g.32530_32533dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000316793.8:c.922+5934_922+5937dup (OXTR) MANE Select	ENSP00000324270.2:n.922+5934_922+5937dup
ENST00000316793.7:c.922+5934_922+5937dup (OXTR)	ENSP00000324270.2:n.922+5934_922+5937dup
ENST00000472766.1:n.156-16138_156-16135dup (CAV3)
NM_000916.3:c.922+5934_922+5937dup (OXTR)	NP_000907.2:n.922+5934_922+5937dup
XM_011533762.1:c.922+5934_922+5937dup (OXTR)	XP_011532064.1:n.922+5934_922+5937dup
XM_011533763.1:c.922+5934_922+5937dup (OXTR)	XP_011532065.1:n.922+5934_922+5937dup
NM_001354653.1:c.922+5934_922+5937dup (OXTR)	NP_001341582.1:n.922+5934_922+5937dup
NM_001354654.1:c.922+5934_922+5937dup (OXTR)	NP_001341583.1:n.922+5934_922+5937dup
NM_001354655.1:c.922+5934_922+5937dup (OXTR)	NP_001341584.1:n.922+5934_922+5937dup
NM_001354656.1:c.922+5934_922+5937dup (OXTR)	NP_001341585.1:n.922+5934_922+5937dup
NM_001354656.2:c.922+5934_922+5937dup (OXTR)	NP_001341585.1:n.922+5934_922+5937dup
NM_000916.4:c.922+5934_922+5937dup (OXTR) MANE Select	NP_000907.2:n.922+5934_922+5937dup
NM_001354653.2:c.922+5934_922+5937dup (OXTR)	NP_001341582.1:n.922+5934_922+5937dup
NM_001354654.2:c.922+5934_922+5937dup (OXTR)	NP_001341583.1:n.922+5934_922+5937dup
NM_001354655.2:c.922+5934_922+5937dup (OXTR)	NP_001341584.1:n.922+5934_922+5937dup
NM_001354656.3:c.922+5934_922+5937dup (OXTR)	NP_001341585.1:n.922+5934_922+5937dup