Canonical Allele Identifier: CA540835334

Gene: OXTR CAV3

Linked Data

• dbSNP Id: rs1460475171
• gnomAD v2: 3-8802447-AAC-A
• gnomAD v3: 3-8760761-AAC-A
• gnomAD v4: 3-8760761-AAC-A
• MyVariant Identifiers: chr3:g.8802448_8802449del (hg19) ; chr3:g.8760762_8760763del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8760763_8760764del , CM000665.2:g.8760763_8760764del	GRCh38
NC_000003.11:g.8802449_8802450del , CM000665.1:g.8802449_8802450del	GRCh37
NC_000003.10:g.8777449_8777450del	NCBI36
NG_008797.2:g.31954_31955del , LRG_329:g.31954_31955del

Transcript Alleles

HGVS	Amino-acid change
ENST00000316793.8:c.922+6503_922+6504del (OXTR) MANE Select	ENSP00000324270.2:n.922+6503_922+6504del
ENST00000316793.7:c.922+6503_922+6504del (OXTR)	ENSP00000324270.2:n.922+6503_922+6504del
ENST00000472766.1:n.156-16714_156-16713del (CAV3)
NM_000916.3:c.922+6503_922+6504del (OXTR)	NP_000907.2:n.922+6503_922+6504del
XM_011533762.1:c.922+6503_922+6504del (OXTR)	XP_011532064.1:n.922+6503_922+6504del
XM_011533763.1:c.922+6503_922+6504del (OXTR)	XP_011532065.1:n.922+6503_922+6504del
NM_001354653.1:c.922+6503_922+6504del (OXTR)	NP_001341582.1:n.922+6503_922+6504del
NM_001354654.1:c.922+6503_922+6504del (OXTR)	NP_001341583.1:n.922+6503_922+6504del
NM_001354655.1:c.922+6503_922+6504del (OXTR)	NP_001341584.1:n.922+6503_922+6504del
NM_001354656.1:c.922+6503_922+6504del (OXTR)	NP_001341585.1:n.922+6503_922+6504del
NM_001354656.2:c.922+6503_922+6504del (OXTR)	NP_001341585.1:n.922+6503_922+6504del
NM_000916.4:c.922+6503_922+6504del (OXTR) MANE Select	NP_000907.2:n.922+6503_922+6504del
NM_001354653.2:c.922+6503_922+6504del (OXTR)	NP_001341582.1:n.922+6503_922+6504del
NM_001354654.2:c.922+6503_922+6504del (OXTR)	NP_001341583.1:n.922+6503_922+6504del
NM_001354655.2:c.922+6503_922+6504del (OXTR)	NP_001341584.1:n.922+6503_922+6504del
NM_001354656.3:c.922+6503_922+6504del (OXTR)	NP_001341585.1:n.922+6503_922+6504del