Canonical Allele Identifier: CA645521279

Gene: OXTR CAV3

Linked Data

• dbSNP Id: rs1708637105
• gnomAD v4: 3-8767428-GC-G
• COSMIC: COSM4710641

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8767434del , CM000665.2:g.8767434del	GRCh38
NC_000003.11:g.8809120del , CM000665.1:g.8809120del	GRCh37
NC_000003.10:g.8784120del	NCBI36
NG_008797.2:g.38625del , LRG_329:g.38625del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316793.8:c.759del (OXTR) MANE Select	ENSP00000324270.2:p.Arg254AlafsTer23
ENST00000316793.7:c.759del (OXTR)	ENSP00000324270.2:p.Arg254AlafsTer23
ENST00000472766.1:n.156-10043del (CAV3)
NM_000916.3:c.759del (OXTR)	NP_000907.2:p.Arg254AlafsTer23
XM_011533762.1:c.759del (OXTR)	XP_011532064.1:p.Arg254AlafsTer23
XM_011533763.1:c.759del (OXTR)	XP_011532065.1:p.Arg254AlafsTer23
NM_001354653.1:c.759del (OXTR)	NP_001341582.1:p.Arg254AlafsTer23
NM_001354654.1:c.759del (OXTR)	NP_001341583.1:p.Arg254AlafsTer23
NM_001354655.1:c.759del (OXTR)	NP_001341584.1:p.Arg254AlafsTer23
NM_001354656.1:c.759del (OXTR)	NP_001341585.1:p.Arg254AlafsTer23
NM_001354656.2:c.759del (OXTR)	NP_001341585.1:p.Arg254AlafsTer23
NM_000916.4:c.759del (OXTR) MANE Select	NP_000907.2:p.Arg254AlafsTer23
NM_001354653.2:c.759del (OXTR)	NP_001341582.1:p.Arg254AlafsTer23
NM_001354654.2:c.759del (OXTR)	NP_001341583.1:p.Arg254AlafsTer23
NM_001354655.2:c.759del (OXTR)	NP_001341584.1:p.Arg254AlafsTer23
NM_001354656.3:c.759del (OXTR)	NP_001341585.1:p.Arg254AlafsTer23