Canonical Allele Identifier: CA2224361190

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894491_56894496delinsGTGTAT , CM000678.2:g.56894491_56894496delinsGTGTAT	GRCh38
NC_000016.9:g.56928403_56928408delinsGTGTAT , CM000678.1:g.56928403_56928408delinsGTGTAT	GRCh37
NC_000016.8:g.55485904_55485909delinsGTGTAT	NCBI36
NG_009386.1:g.34285_34290delinsGTGTAT
NG_009386.2:g.34285_34290delinsGTGTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2522-40_2522-35delinsGTGTAT MANE Select	ENSP00000456149.2:n.2522-40_2522-35delinsGTGTAT
ENST00000262502.5:c.2519-40_2519-35delinsGTGTAT	ENSP00000262502.5:n.2519-40_2519-35delinsGTGTAT
ENST00000438926.6:c.2549-40_2549-35delinsGTGTAT	ENSP00000402152.2:n.2549-40_2549-35delinsGTGTAT
ENST00000563236.5:c.2522-40_2522-35delinsGTGTAT	ENSP00000456149.1:n.2522-40_2522-35delinsGTGTAT
ENST00000566786.5:c.2546-40_2546-35delinsGTGTAT	ENSP00000457552.1:n.2546-40_2546-35delinsGTGTAT
NM_000339.2:c.2549-40_2549-35delinsGTGTAT	NP_000330.2:n.2549-40_2549-35delinsGTGTAT
NM_001126107.1:c.2546-40_2546-35delinsGTGTAT	NP_001119579.1:n.2546-40_2546-35delinsGTGTAT
NM_001126108.1:c.2522-40_2522-35delinsGTGTAT	NP_001119580.1:n.2522-40_2522-35delinsGTGTAT
XM_005256119.1:c.2519-40_2519-35delinsGTGTAT	XP_005256176.1:n.2519-40_2519-35delinsGTGTAT
XM_005256119.2:c.2519-40_2519-35delinsGTGTAT	XP_005256176.1:n.2519-40_2519-35delinsGTGTAT
NM_000339.3:c.2549-40_2549-35delinsGTGTAT	NP_000330.3:n.2549-40_2549-35delinsGTGTAT
NM_001126107.2:c.2546-40_2546-35delinsGTGTAT	NP_001119579.2:n.2546-40_2546-35delinsGTGTAT
NM_001126108.2:c.2522-40_2522-35delinsGTGTAT MANE Select	NP_001119580.2:n.2522-40_2522-35delinsGTGTAT