Canonical Allele Identifier: CA2224357912

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56887788_56887799delinsATATATATATAT , CM000678.2:g.56887788_56887799delinsATATATATATAT	GRCh38
NC_000016.9:g.56921700_56921711delinsATATATATATAT , CM000678.1:g.56921700_56921711delinsATATATATATAT	GRCh37
NC_000016.8:g.55479201_55479212delinsATATATATATAT	NCBI36
NG_009386.1:g.27582_27593delinsATATATATATAT
NG_009386.2:g.27582_27593delinsATATATATATAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2179-137_2179-126delinsATATATATATAT MANE Select	ENSP00000456149.2:n.2179-137_2179-126delinsATATATATATAT
ENST00000262502.5:c.2176-137_2176-126delinsATATATATATAT	ENSP00000262502.5:n.2176-137_2176-126delinsATATATATATAT
ENST00000438926.6:c.2179-137_2179-126delinsATATATATATAT	ENSP00000402152.2:n.2179-137_2179-126delinsATATATATATAT
ENST00000563236.5:c.2179-137_2179-126delinsATATATATATAT	ENSP00000456149.1:n.2179-137_2179-126delinsATATATATATAT
ENST00000566786.5:c.2176-137_2176-126delinsATATATATATAT	ENSP00000457552.1:n.2176-137_2176-126delinsATATATATATAT
NM_000339.2:c.2179-137_2179-126delinsATATATATATAT	NP_000330.2:n.2179-137_2179-126delinsATATATATATAT
NM_001126107.1:c.2176-137_2176-126delinsATATATATATAT	NP_001119579.1:n.2176-137_2176-126delinsATATATATATAT
NM_001126108.1:c.2179-137_2179-126delinsATATATATATAT	NP_001119580.1:n.2179-137_2179-126delinsATATATATATAT
XM_005256119.1:c.2176-137_2176-126delinsATATATATATAT	XP_005256176.1:n.2176-137_2176-126delinsATATATATATAT
XM_005256119.2:c.2176-137_2176-126delinsATATATATATAT	XP_005256176.1:n.2176-137_2176-126delinsATATATATATAT
NM_000339.3:c.2179-137_2179-126delinsATATATATATAT	NP_000330.3:n.2179-137_2179-126delinsATATATATATAT
NM_001126107.2:c.2176-137_2176-126delinsATATATATATAT	NP_001119579.2:n.2176-137_2176-126delinsATATATATATAT
NM_001126108.2:c.2179-137_2179-126delinsATATATATATAT MANE Select	NP_001119580.2:n.2179-137_2179-126delinsATATATATATAT