Canonical Allele Identifier: CA1344415924
Gene: OXTR HGNC NCBI
CAV3 HGNC NCBI

Linked Data

dbSNP Id: rs1708635722
gnomAD v4: 3-8767418-AGGGCCACGCGCCCCCCATCGCCAGCCGCCGCGCCCTCT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8767421_8767458del , CM000665.2:g.8767421_8767458del GRCh38
NC_000003.11:g.8809107_8809144del , CM000665.1:g.8809107_8809144del GRCh37
NC_000003.10:g.8784107_8784144del NCBI36
NG_008797.2:g.38612_38649del , LRG_329:g.38612_38649del

Transcript Alleles

HGVS Amino-acid change
ENST00000316793.8:c.732_769del (OXTR) MANE Select ENSP00000324270.2:p.Glu245GlyfsTer?
ENST00000316793.7:c.732_769del (OXTR) ENSP00000324270.2:p.Glu245GlyfsTer?
ENST00000472766.1:n.156-10056_156-10019del (CAV3)
NM_000916.3:c.732_769del (OXTR) NP_000907.2:p.Glu245GlyfsTer?
XM_011533762.1:c.732_769del (OXTR) XP_011532064.1:p.Glu245GlyfsTer?
XM_011533763.1:c.732_769del (OXTR) XP_011532065.1:p.Glu245GlyfsTer?
NM_001354653.1:c.732_769del (OXTR) NP_001341582.1:p.Glu245GlyfsTer?
NM_001354654.1:c.732_769del (OXTR) NP_001341583.1:p.Glu245GlyfsTer?
NM_001354655.1:c.732_769del (OXTR) NP_001341584.1:p.Glu245GlyfsTer?
NM_001354656.1:c.732_769del (OXTR) NP_001341585.1:p.Glu245GlyfsTer?
NM_001354656.2:c.732_769del (OXTR) NP_001341585.1:p.Glu245GlyfsTer?
NM_000916.4:c.732_769del (OXTR) MANE Select NP_000907.2:p.Glu245GlyfsTer?
NM_001354653.2:c.732_769del (OXTR) NP_001341582.1:p.Glu245GlyfsTer?
NM_001354654.2:c.732_769del (OXTR) NP_001341583.1:p.Glu245GlyfsTer?
NM_001354655.2:c.732_769del (OXTR) NP_001341584.1:p.Glu245GlyfsTer?
NM_001354656.3:c.732_769del (OXTR) NP_001341585.1:p.Glu245GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'