Canonical Allele Identifier: CA113916

Gene: OAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.124405534_124405536del , CM000672.2:g.124405534_124405536del	GRCh38
NC_000010.10:g.126094103_126094105del , CM000672.1:g.126094103_126094105del	GRCh37
NC_000010.9:g.126084093_126084095del	NCBI36
NG_008861.1:g.18417_18419del , LRG_685:g.18417_18419del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368845.6:c.550_552del MANE Select	ENSP00000357838.5:p.Ala184del
ENST00000368845.5:c.550_552del	ENSP00000357838.5:p.Ala184del
ENST00000467675.5:n.351_353del
ENST00000483711.1:n.396_398del
ENST00000539214.5:c.136_138del	ENSP00000439042.1:p.Ala46del
NM_000274.3:c.550_552del , LRG_685t1:c.550_552del	NP_000265.1:p.Ala184del
NM_001171814.1:c.136_138del	NP_001165285.1:p.Ala46del
XM_006717871.2:c.550_552del	XP_006717934.1:p.Ala184del
XM_011539833.1:c.550_552del	XP_011538135.1:p.Ala184del
XM_011539834.1:c.550_552del	XP_011538136.1:p.Ala184del
NM_001322965.1:c.550_552del	NP_001309894.1:p.Ala184del
NM_001322966.1:c.550_552del	NP_001309895.1:p.Ala184del
NM_001322967.1:c.550_552del	NP_001309896.1:p.Ala184del
NM_001322968.1:c.550_552del	NP_001309897.1:p.Ala184del
NM_001322969.1:c.550_552del	NP_001309898.1:p.Ala184del
NM_001322970.1:c.550_552del	NP_001309899.1:p.Ala184del
NM_001322971.1:c.229_231del	NP_001309900.1:p.Ala77del
NM_001322974.1:c.-51_-49del	NP_001309903.1:n.-51_-49del
XM_017016279.1:c.-51_-49del	XP_016871768.1:n.-51_-49del
NM_000274.4:c.550_552del MANE Select	NP_000265.1:p.Ala184del
NM_001322965.2:c.550_552del	NP_001309894.1:p.Ala184del
NM_001322966.2:c.550_552del	NP_001309895.1:p.Ala184del
NM_001322967.2:c.550_552del	NP_001309896.1:p.Ala184del
NM_001322968.2:c.550_552del	NP_001309897.1:p.Ala184del
NM_001322969.2:c.550_552del	NP_001309898.1:p.Ala184del
NM_001322970.2:c.550_552del	NP_001309899.1:p.Ala184del
NM_001322971.2:c.229_231del	NP_001309900.1:p.Ala77del
NM_001322974.2:c.-51_-49del	NP_001309903.1:n.-51_-49del
NM_001171814.2:c.136_138del	NP_001165285.1:p.Ala46del