Canonical Allele Identifier: CA2224349407

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870348_56870354delinsGAACCAC , CM000678.2:g.56870348_56870354delinsGAACCAC	GRCh38
NC_000016.9:g.56904260_56904266delinsGAACCAC , CM000678.1:g.56904260_56904266delinsGAACCAC	GRCh37
NC_000016.8:g.55461761_55461767delinsGAACCAC	NCBI36
NG_009386.1:g.10142_10148delinsGAACCAC
NG_009386.2:g.10142_10148delinsGAACCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.741+113_741+119delinsGAACCAC MANE Select	ENSP00000456149.2:n.741+113_741+119delinsGAACCAC
ENST00000262502.5:c.738+113_738+119delinsGAACCAC	ENSP00000262502.5:n.738+113_738+119delinsGAACCAC
ENST00000438926.6:c.741+113_741+119delinsGAACCAC	ENSP00000402152.2:n.741+113_741+119delinsGAACCAC
ENST00000563236.5:c.741+113_741+119delinsGAACCAC	ENSP00000456149.1:n.741+113_741+119delinsGAACCAC
ENST00000566786.5:c.738+113_738+119delinsGAACCAC	ENSP00000457552.1:n.738+113_738+119delinsGAACCAC
NM_000339.2:c.741+113_741+119delinsGAACCAC	NP_000330.2:n.741+113_741+119delinsGAACCAC
NM_001126107.1:c.738+113_738+119delinsGAACCAC	NP_001119579.1:n.738+113_738+119delinsGAACCAC
NM_001126108.1:c.741+113_741+119delinsGAACCAC	NP_001119580.1:n.741+113_741+119delinsGAACCAC
XM_005256119.1:c.738+113_738+119delinsGAACCAC	XP_005256176.1:n.738+113_738+119delinsGAACCAC
XM_005256119.2:c.738+113_738+119delinsGAACCAC	XP_005256176.1:n.738+113_738+119delinsGAACCAC
NM_000339.3:c.741+113_741+119delinsGAACCAC	NP_000330.3:n.741+113_741+119delinsGAACCAC
NM_001126107.2:c.738+113_738+119delinsGAACCAC	NP_001119579.2:n.738+113_738+119delinsGAACCAC
NM_001126108.2:c.741+113_741+119delinsGAACCAC MANE Select	NP_001119580.2:n.741+113_741+119delinsGAACCAC