Canonical Allele Identifier: CA69850486

Gene: OXTR CAV3

Linked Data

• dbSNP Id: rs971026001
• gnomAD v2: 3-8802639-CTT-C
• gnomAD v3: 3-8760953-CTT-C
• gnomAD v4: 3-8760953-CTT-C
• MyVariant Identifiers: chr3:g.8802640_8802641del (hg19) ; chr3:g.8760954_8760955del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8760955_8760956del , CM000665.2:g.8760955_8760956del	GRCh38
NC_000003.11:g.8802641_8802642del , CM000665.1:g.8802641_8802642del	GRCh37
NC_000003.10:g.8777641_8777642del	NCBI36
NG_008797.2:g.32146_32147del , LRG_329:g.32146_32147del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316793.8:c.922+6311_922+6312del (OXTR) MANE Select	ENSP00000324270.2:n.922+6311_922+6312del
ENST00000316793.7:c.922+6311_922+6312del (OXTR)	ENSP00000324270.2:n.922+6311_922+6312del
ENST00000472766.1:n.156-16522_156-16521del (CAV3)
NM_000916.3:c.922+6311_922+6312del (OXTR)	NP_000907.2:n.922+6311_922+6312del
XM_011533762.1:c.922+6311_922+6312del (OXTR)	XP_011532064.1:n.922+6311_922+6312del
XM_011533763.1:c.922+6311_922+6312del (OXTR)	XP_011532065.1:n.922+6311_922+6312del
NM_001354653.1:c.922+6311_922+6312del (OXTR)	NP_001341582.1:n.922+6311_922+6312del
NM_001354654.1:c.922+6311_922+6312del (OXTR)	NP_001341583.1:n.922+6311_922+6312del
NM_001354655.1:c.922+6311_922+6312del (OXTR)	NP_001341584.1:n.922+6311_922+6312del
NM_001354656.1:c.922+6311_922+6312del (OXTR)	NP_001341585.1:n.922+6311_922+6312del
NM_001354656.2:c.922+6311_922+6312del (OXTR)	NP_001341585.1:n.922+6311_922+6312del
NM_000916.4:c.922+6311_922+6312del (OXTR) MANE Select	NP_000907.2:n.922+6311_922+6312del
NM_001354653.2:c.922+6311_922+6312del (OXTR)	NP_001341582.1:n.922+6311_922+6312del
NM_001354654.2:c.922+6311_922+6312del (OXTR)	NP_001341583.1:n.922+6311_922+6312del
NM_001354655.2:c.922+6311_922+6312del (OXTR)	NP_001341584.1:n.922+6311_922+6312del
NM_001354656.3:c.922+6311_922+6312del (OXTR)	NP_001341585.1:n.922+6311_922+6312del