Canonical Allele Identifier: CA5733506

Gene: OAT

Linked Data

• dbSNP Id: rs768951986
• ExAC: 10:126094157 TTATTTCAAAGAAACCCAA / T
• gnomAD v2: 10-126094157-TTATTTCAAAGAAACCCAA-T
• gnomAD v4: 10-124405588-TTATTTCAAAGAAACCCAA-T
• MyVariant Identifiers: chr10:g.126094158_126094175del (hg19) ; chr10:g.124405589_124405606del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.124405589_124405606del , CM000672.2:g.124405589_124405606del	GRCh38
NC_000010.10:g.126094158_126094175del , CM000672.1:g.126094158_126094175del	GRCh37
NC_000010.9:g.126084148_126084165del	NCBI36
NG_008861.1:g.18345_18362del , LRG_685:g.18345_18362del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368845.6:c.521-43_521-26del MANE Select	ENSP00000357838.5:n.521-43_521-26del
ENST00000368845.5:c.521-43_521-26del	ENSP00000357838.5:n.521-43_521-26del
ENST00000467675.5:n.322-43_322-26del
ENST00000483711.1:n.324_341del
ENST00000539214.5:c.107-43_107-26del	ENSP00000439042.1:n.107-43_107-26del
NM_000274.3:c.521-43_521-26del , LRG_685t1:c.521-43_521-26del	NP_000265.1:n.521-43_521-26del
NM_001171814.1:c.107-43_107-26del	NP_001165285.1:n.107-43_107-26del
XM_006717871.2:c.521-43_521-26del	XP_006717934.1:n.521-43_521-26del
XM_011539833.1:c.521-43_521-26del	XP_011538135.1:n.521-43_521-26del
XM_011539834.1:c.521-43_521-26del	XP_011538136.1:n.521-43_521-26del
NM_001322965.1:c.521-43_521-26del	NP_001309894.1:n.521-43_521-26del
NM_001322966.1:c.521-43_521-26del	NP_001309895.1:n.521-43_521-26del
NM_001322967.1:c.521-43_521-26del	NP_001309896.1:n.521-43_521-26del
NM_001322968.1:c.521-43_521-26del	NP_001309897.1:n.521-43_521-26del
NM_001322969.1:c.521-43_521-26del	NP_001309898.1:n.521-43_521-26del
NM_001322970.1:c.521-43_521-26del	NP_001309899.1:n.521-43_521-26del
NM_001322971.1:c.200-43_200-26del	NP_001309900.1:n.200-43_200-26del
NM_001322974.1:c.-80-43_-80-26del	NP_001309903.1:n.-80-43_-80-26del
XM_017016279.1:c.-123_-106del	XP_016871768.1:n.-123_-106del
NM_000274.4:c.521-43_521-26del MANE Select	NP_000265.1:n.521-43_521-26del
NM_001322965.2:c.521-43_521-26del	NP_001309894.1:n.521-43_521-26del
NM_001322966.2:c.521-43_521-26del	NP_001309895.1:n.521-43_521-26del
NM_001322967.2:c.521-43_521-26del	NP_001309896.1:n.521-43_521-26del
NM_001322968.2:c.521-43_521-26del	NP_001309897.1:n.521-43_521-26del
NM_001322969.2:c.521-43_521-26del	NP_001309898.1:n.521-43_521-26del
NM_001322970.2:c.521-43_521-26del	NP_001309899.1:n.521-43_521-26del
NM_001322971.2:c.200-43_200-26del	NP_001309900.1:n.200-43_200-26del
NM_001322974.2:c.-80-43_-80-26del	NP_001309903.1:n.-80-43_-80-26del
NM_001171814.2:c.107-43_107-26del	NP_001165285.1:n.107-43_107-26del