Canonical Allele Identifier: CA2789828686
Gene: OAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.124409008_124409145del , CM000672.2:g.124409008_124409145del GRCh38
NC_000010.10:g.126097577_126097714del , CM000672.1:g.126097577_126097714del GRCh37
NC_000010.9:g.126087567_126087704del NCBI36
NG_008861.1:g.14814_14951del , LRG_685:g.14814_14951del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368845.6:c.200-172_200-35del MANE Select ENSP00000357838.5:n.200-172_200-35del
ENST00000368845.5:c.200-172_200-35del ENSP00000357838.5:n.200-172_200-35del
ENST00000476917.5:n.265-172_265-35del
ENST00000490096.5:n.436-172_436-35del
ENST00000492376.1:n.548-172_548-35del
ENST00000539214.5:c.-215-172_-215-35del ENSP00000439042.1:n.-215-172_-215-35del
NM_000274.3:c.200-172_200-35del , LRG_685t1:c.200-172_200-35del NP_000265.1:n.200-172_200-35del
NM_001171814.1:c.-215-172_-215-35del NP_001165285.1:n.-215-172_-215-35del
XM_006717871.2:c.200-172_200-35del XP_006717934.1:n.200-172_200-35del
XM_011539833.1:c.200-172_200-35del XP_011538135.1:n.200-172_200-35del
XM_011539834.1:c.200-172_200-35del XP_011538136.1:n.200-172_200-35del
NM_001322965.1:c.200-172_200-35del NP_001309894.1:n.200-172_200-35del
NM_001322966.1:c.200-172_200-35del NP_001309895.1:n.200-172_200-35del
NM_001322967.1:c.200-172_200-35del NP_001309896.1:n.200-172_200-35del
NM_001322968.1:c.200-172_200-35del NP_001309897.1:n.200-172_200-35del
NM_001322969.1:c.200-172_200-35del NP_001309898.1:n.200-172_200-35del
NM_001322970.1:c.200-172_200-35del NP_001309899.1:n.200-172_200-35del
NM_001322971.1:c.199+2836_199+2973del NP_001309900.1:n.199+2836_199+2973del
NM_001322974.1:c.-515-172_-515-35del NP_001309903.1:n.-515-172_-515-35del
XM_017016279.1:c.-2254-172_-2254-35del XP_016871768.1:n.-2254-172_-2254-35del
NM_000274.4:c.200-172_200-35del MANE Select NP_000265.1:n.200-172_200-35del
NM_001322965.2:c.200-172_200-35del NP_001309894.1:n.200-172_200-35del
NM_001322966.2:c.200-172_200-35del NP_001309895.1:n.200-172_200-35del
NM_001322967.2:c.200-172_200-35del NP_001309896.1:n.200-172_200-35del
NM_001322968.2:c.200-172_200-35del NP_001309897.1:n.200-172_200-35del
NM_001322969.2:c.200-172_200-35del NP_001309898.1:n.200-172_200-35del
NM_001322970.2:c.200-172_200-35del NP_001309899.1:n.200-172_200-35del
NM_001322971.2:c.199+2836_199+2973del NP_001309900.1:n.199+2836_199+2973del
NM_001322974.2:c.-515-172_-515-35del NP_001309903.1:n.-515-172_-515-35del
NM_001171814.2:c.-215-172_-215-35del NP_001165285.1:n.-215-172_-215-35del