Canonical Allele Identifier: CA933468331

Gene: OAT

Linked Data

• ClinVar Variation Id: 1510856
• ClinVar RCV Id: RCV002014178 ; RCV002307832
• dbSNP Id: rs1951451290
• gnomAD v3: 10-124402875-GGGTATATTTTACAAGAGTAGGAAATGGAAAGAGGGGGAACATGAAACTTACAGGGTATAAGCCCCCAGAAA-G
• gnomAD v4: 10-124402875-GGGTATATTTTACAAGAGTAGGAAATGGAAAGAGGGGGAACATGAAACTTACAGGGTATAAGCCCCCAGAAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.124402878_124402948del , CM000672.2:g.124402878_124402948del	GRCh38
NC_000010.10:g.126091447_126091517del , CM000672.1:g.126091447_126091517del	GRCh37
NC_000010.9:g.126081437_126081507del	NCBI36
NG_008861.1:g.21005_21075del , LRG_685:g.21005_21075del

Transcript Alleles

HGVS	Amino-acid change
ENST00000368845.6:c.881_900+51del
ENST00000368845.5:c.881_900+51del
ENST00000467675.5:n.682_701+51del
ENST00000471127.1:n.391_410+51del
ENST00000539214.5:c.467_486+51del
NM_000274.3:c.881_900+51del , LRG_685t1:c.881_900+51del
NM_001171814.1:c.467_486+51del
XM_006717871.2:c.881_900+51del
XM_011539833.1:c.881_900+51del
XM_011539834.1:c.881_900+51del
NM_001322965.1:c.881_900+51del
NM_001322966.1:c.881_900+51del
NM_001322967.1:c.881_900+51del
NM_001322968.1:c.881_900+51del
NM_001322969.1:c.881_900+51del
NM_001322970.1:c.881_900+51del
NM_001322971.1:c.560_579+51del
NM_001322974.1:c.281_300+51del
XM_017016279.1:c.281_300+51del
NM_000274.4:c.881_900+51del
NM_001322965.2:c.881_900+51del
NM_001322966.2:c.881_900+51del
NM_001322967.2:c.881_900+51del
NM_001322968.2:c.881_900+51del
NM_001322969.2:c.881_900+51del
NM_001322970.2:c.881_900+51del
NM_001322971.2:c.560_579+51del
NM_001322974.2:c.281_300+51del
NM_001171814.2:c.467_486+51del