Canonical Allele Identifier: CA1044899529

Gene: OXTR CAV3

Linked Data

• gnomAD v3: 3-8755178-TGCAAAAGTCAATATTTACAACCTACCAGCCACAAAGGGAAGGTTCGCCCACAAGACTAAAACCAGAATGTCTTAGAAATAATGAAAGAGGCAAAAATCAAC-T
• gnomAD v4: 3-8755178-TGCAAAAGTCAATATTTACAACCTACCAGCCACAAAGGGAAGGTTCGCCCACAAGACTAAAACCAGAATGTCTTAGAAATAATGAAAGAGGCAAAAATCAAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8755180_8755280del , CM000665.2:g.8755180_8755280del	GRCh38
NC_000003.11:g.8796866_8796966del , CM000665.1:g.8796866_8796966del	GRCh37
NC_000003.10:g.8771866_8771966del	NCBI36
NG_008797.2:g.26371_26471del , LRG_329:g.26371_26471del

Transcript Alleles

HGVS	Amino-acid change
ENST00000316793.8:c.923-2055_923-1955del (OXTR) MANE Select	ENSP00000324270.2:n.923-2055_923-1955del
ENST00000316793.7:c.923-2055_923-1955del (OXTR)	ENSP00000324270.2:n.923-2055_923-1955del
ENST00000472766.1:n.155+21190_155+21290del (CAV3)
NM_000916.3:c.923-2055_923-1955del (OXTR)	NP_000907.2:n.923-2055_923-1955del
XM_011533762.1:c.923-2055_923-1955del (OXTR)	XP_011532064.1:n.923-2055_923-1955del
XM_011533763.1:c.923-2055_923-1955del (OXTR)	XP_011532065.1:n.923-2055_923-1955del
NM_001354653.1:c.923-2055_923-1955del (OXTR)	NP_001341582.1:n.923-2055_923-1955del
NM_001354654.1:c.923-2055_923-1955del (OXTR)	NP_001341583.1:n.923-2055_923-1955del
NM_001354655.1:c.923-2055_923-1955del (OXTR)	NP_001341584.1:n.923-2055_923-1955del
NM_001354656.1:c.923-2055_923-1955del (OXTR)	NP_001341585.1:n.923-2055_923-1955del
NM_001354656.2:c.923-2055_923-1955del (OXTR)	NP_001341585.1:n.923-2055_923-1955del
NM_000916.4:c.923-2055_923-1955del (OXTR) MANE Select	NP_000907.2:n.923-2055_923-1955del
NM_001354653.2:c.923-2055_923-1955del (OXTR)	NP_001341582.1:n.923-2055_923-1955del
NM_001354654.2:c.923-2055_923-1955del (OXTR)	NP_001341583.1:n.923-2055_923-1955del
NM_001354655.2:c.923-2055_923-1955del (OXTR)	NP_001341584.1:n.923-2055_923-1955del
NM_001354656.3:c.923-2055_923-1955del (OXTR)	NP_001341585.1:n.923-2055_923-1955del