Canonical Allele Identifier: CA541211386

Gene: OXTR CAV3

Linked Data

• dbSNP Id: rs759288042
• gnomAD v2: 3-8809127-AGCCGCCGCGCCCTCTGGCGCCTCG-A
• gnomAD v4: 3-8767441-AGCCGCCGCGCCCTCTGGCGCCTCG-A
• MyVariant Identifiers: chr3:g.8809128_8809151del (hg19) ; chr3:g.8767442_8767465del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8767450_8767473del , CM000665.2:g.8767450_8767473del	GRCh38
NC_000003.11:g.8809136_8809159del , CM000665.1:g.8809136_8809159del	GRCh37
NC_000003.10:g.8784136_8784159del	NCBI36
NG_008797.2:g.38641_38664del , LRG_329:g.38641_38664del

Transcript Alleles

HGVS	Amino-acid change
ENST00000316793.8:c.723_746del (OXTR) MANE Select	ENSP00000324270.2:p.Glu242_Ala249del
ENST00000316793.7:c.723_746del (OXTR)	ENSP00000324270.2:p.Glu242_Ala249del
ENST00000472766.1:n.156-10027_156-10004del (CAV3)
NM_000916.3:c.723_746del (OXTR)	NP_000907.2:p.Glu242_Ala249del
XM_011533762.1:c.723_746del (OXTR)	XP_011532064.1:p.Glu242_Ala249del
XM_011533763.1:c.723_746del (OXTR)	XP_011532065.1:p.Glu242_Ala249del
NM_001354653.1:c.723_746del (OXTR)	NP_001341582.1:p.Glu242_Ala249del
NM_001354654.1:c.723_746del (OXTR)	NP_001341583.1:p.Glu242_Ala249del
NM_001354655.1:c.723_746del (OXTR)	NP_001341584.1:p.Glu242_Ala249del
NM_001354656.1:c.723_746del (OXTR)	NP_001341585.1:p.Glu242_Ala249del
NM_001354656.2:c.723_746del (OXTR)	NP_001341585.1:p.Glu242_Ala249del
NM_000916.4:c.723_746del (OXTR) MANE Select	NP_000907.2:p.Glu242_Ala249del
NM_001354653.2:c.723_746del (OXTR)	NP_001341582.1:p.Glu242_Ala249del
NM_001354654.2:c.723_746del (OXTR)	NP_001341583.1:p.Glu242_Ala249del
NM_001354655.2:c.723_746del (OXTR)	NP_001341584.1:p.Glu242_Ala249del
NM_001354656.3:c.723_746del (OXTR)	NP_001341585.1:p.Glu242_Ala249del