Canonical Allele Identifier: CA596407348

Gene: OAT

Linked Data

• dbSNP Id: rs1430126839
• gnomAD v2: 10-126089538-TTTC-T
• gnomAD v4: 10-124400969-TTTC-T
• MyVariant Identifiers: chr10:g.126089539_126089541del (hg19) ; chr10:g.124400970_124400972del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.124400977_124400979del , CM000672.2:g.124400977_124400979del	GRCh38
NC_000010.10:g.126089546_126089548del , CM000672.1:g.126089546_126089548del	GRCh37
NC_000010.9:g.126079536_126079538del	NCBI36
NG_008861.1:g.22979_22981del , LRG_685:g.22979_22981del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368845.6:c.1027_1029del MANE Select	ENSP00000357838.5:p.Glu343del
ENST00000368845.5:c.1027_1029del	ENSP00000357838.5:p.Glu343del
ENST00000471127.1:n.537_539del
ENST00000539214.5:c.613_615del	ENSP00000439042.1:p.Glu205del
NM_000274.3:c.1027_1029del , LRG_685t1:c.1027_1029del	NP_000265.1:p.Glu343del
NM_001171814.1:c.613_615del	NP_001165285.1:p.Glu205del
XM_006717871.2:c.1027_1029del	XP_006717934.1:p.Glu343del
XM_011539833.1:c.1027_1029del	XP_011538135.1:p.Glu343del
XM_011539834.1:c.1027_1029del	XP_011538136.1:p.Glu343del
NM_001322965.1:c.1027_1029del	NP_001309894.1:p.Glu343del
NM_001322966.1:c.1027_1029del	NP_001309895.1:p.Glu343del
NM_001322967.1:c.1027_1029del	NP_001309896.1:p.Glu343del
NM_001322968.1:c.1027_1029del	NP_001309897.1:p.Glu343del
NM_001322969.1:c.1027_1029del	NP_001309898.1:p.Glu343del
NM_001322970.1:c.1027_1029del	NP_001309899.1:p.Glu343del
NM_001322971.1:c.706_708del	NP_001309900.1:p.Glu236del
NM_001322974.1:c.427_429del	NP_001309903.1:p.Glu143del
XM_017016279.1:c.427_429del	XP_016871768.1:p.Glu143del
NM_000274.4:c.1027_1029del MANE Select	NP_000265.1:p.Glu343del
NM_001322965.2:c.1027_1029del	NP_001309894.1:p.Glu343del
NM_001322966.2:c.1027_1029del	NP_001309895.1:p.Glu343del
NM_001322967.2:c.1027_1029del	NP_001309896.1:p.Glu343del
NM_001322968.2:c.1027_1029del	NP_001309897.1:p.Glu343del
NM_001322969.2:c.1027_1029del	NP_001309898.1:p.Glu343del
NM_001322970.2:c.1027_1029del	NP_001309899.1:p.Glu343del
NM_001322971.2:c.706_708del	NP_001309900.1:p.Glu236del
NM_001322974.2:c.427_429del	NP_001309903.1:p.Glu143del
NM_001171814.2:c.613_615del	NP_001165285.1:p.Glu205del