Canonical Allele Identifier: CA1044889227

Gene: OXTR CAV3

Linked Data

• dbSNP Id: rs1708464390
• gnomAD v3: 3-8760641-T-TA
• gnomAD v4: 3-8760641-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8760642dup , CM000665.2:g.8760642dup	GRCh38
NC_000003.11:g.8802328dup , CM000665.1:g.8802328dup	GRCh37
NC_000003.10:g.8777328dup	NCBI36
NG_008797.2:g.31833dup , LRG_329:g.31833dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000316793.8:c.922+6624dup (OXTR) MANE Select	ENSP00000324270.2:n.922+6624dup
ENST00000316793.7:c.922+6624dup (OXTR)	ENSP00000324270.2:n.922+6624dup
ENST00000472766.1:n.156-16835dup (CAV3)
NM_000916.3:c.922+6624dup (OXTR)	NP_000907.2:n.922+6624dup
XM_011533762.1:c.922+6624dup (OXTR)	XP_011532064.1:n.922+6624dup
XM_011533763.1:c.922+6624dup (OXTR)	XP_011532065.1:n.922+6624dup
NM_001354653.1:c.922+6624dup (OXTR)	NP_001341582.1:n.922+6624dup
NM_001354654.1:c.922+6624dup (OXTR)	NP_001341583.1:n.922+6624dup
NM_001354655.1:c.922+6624dup (OXTR)	NP_001341584.1:n.922+6624dup
NM_001354656.1:c.922+6624dup (OXTR)	NP_001341585.1:n.922+6624dup
NM_001354656.2:c.922+6624dup (OXTR)	NP_001341585.1:n.922+6624dup
NM_000916.4:c.922+6624dup (OXTR) MANE Select	NP_000907.2:n.922+6624dup
NM_001354653.2:c.922+6624dup (OXTR)	NP_001341582.1:n.922+6624dup
NM_001354654.2:c.922+6624dup (OXTR)	NP_001341583.1:n.922+6624dup
NM_001354655.2:c.922+6624dup (OXTR)	NP_001341584.1:n.922+6624dup
NM_001354656.3:c.922+6624dup (OXTR)	NP_001341585.1:n.922+6624dup