Canonical Allele Identifier: CA2664273043

Gene: OXTR CAV3

Linked Data

• gnomAD v4: 3-8768412-AACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8768413_8768415del , CM000665.2:g.8768413_8768415del	GRCh38
NC_000003.11:g.8810099_8810101del , CM000665.1:g.8810099_8810101del	GRCh37
NC_000003.10:g.8785099_8785101del	NCBI36
NG_008797.2:g.39604_39606del , LRG_329:g.39604_39606del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316793.8:c.-143+81_-142-84del (OXTR) MANE Select	ENSP00000324270.2:n.-143+81_-142-84del
ENST00000316793.7:c.-143+81_-142-84del (OXTR)	ENSP00000324270.2:n.-143+81_-142-84del
ENST00000431493.1:c.-143+81_-142-84del (OXTR)	ENSP00000414828.1:n.-143+81_-142-84del
ENST00000449615.1:c.-143+81_-142-84del (OXTR)	ENSP00000389587.1:n.-143+81_-142-84del
ENST00000472766.1:n.156-9064_156-9062del (CAV3)
NM_000916.3:c.-143+81_-142-84del (OXTR)	NP_000907.2:n.-143+81_-142-84del
XM_011533762.1:c.-143+81_-142-84del (OXTR)	XP_011532064.1:n.-143+81_-142-84del
XM_011533763.1:c.-143+81_-142-84del (OXTR)	XP_011532065.1:n.-143+81_-142-84del
NM_001354653.1:c.-143+81_-142-84del (OXTR)	NP_001341582.1:n.-143+81_-142-84del
NM_001354654.1:c.-143+81_-142-84del (OXTR)	NP_001341583.1:n.-143+81_-142-84del
NM_001354655.1:c.-143+81_-142-84del (OXTR)	NP_001341584.1:n.-143+81_-142-84del
NM_001354656.1:c.-143+81_-142-84del (OXTR)	NP_001341585.1:n.-143+81_-142-84del
NM_001354656.2:c.-143+81_-142-84del (OXTR)	NP_001341585.1:n.-143+81_-142-84del
NM_000916.4:c.-143+81_-142-84del (OXTR) MANE Select	NP_000907.2:n.-143+81_-142-84del
NM_001354653.2:c.-143+81_-142-84del (OXTR)	NP_001341582.1:n.-143+81_-142-84del
NM_001354654.2:c.-143+81_-142-84del (OXTR)	NP_001341583.1:n.-143+81_-142-84del
NM_001354655.2:c.-143+81_-142-84del (OXTR)	NP_001341584.1:n.-143+81_-142-84del
NM_001354656.3:c.-143+81_-142-84del (OXTR)	NP_001341585.1:n.-143+81_-142-84del