Canonical Allele Identifier: CA2633371393

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56870304-C-CCCAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870304_56870305insCCAGA , CM000678.2:g.56870304_56870305insCCAGA	GRCh38
NC_000016.9:g.56904216_56904217insCCAGA , CM000678.1:g.56904216_56904217insCCAGA	GRCh37
NC_000016.8:g.55461717_55461718insCCAGA	NCBI36
NG_009386.1:g.10098_10099insCCAGA
NG_009386.2:g.10098_10099insCCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.741+69_741+70insCCAGA MANE Select	ENSP00000456149.2:n.741+69_741+70insCCAGA
ENST00000262502.5:c.738+69_738+70insCCAGA	ENSP00000262502.5:n.738+69_738+70insCCAGA
ENST00000438926.6:c.741+69_741+70insCCAGA	ENSP00000402152.2:n.741+69_741+70insCCAGA
ENST00000563236.5:c.741+69_741+70insCCAGA	ENSP00000456149.1:n.741+69_741+70insCCAGA
ENST00000566786.5:c.738+69_738+70insCCAGA	ENSP00000457552.1:n.738+69_738+70insCCAGA
NM_000339.2:c.741+69_741+70insCCAGA	NP_000330.2:n.741+69_741+70insCCAGA
NM_001126107.1:c.738+69_738+70insCCAGA	NP_001119579.1:n.738+69_738+70insCCAGA
NM_001126108.1:c.741+69_741+70insCCAGA	NP_001119580.1:n.741+69_741+70insCCAGA
XM_005256119.1:c.738+69_738+70insCCAGA	XP_005256176.1:n.738+69_738+70insCCAGA
XM_005256119.2:c.738+69_738+70insCCAGA	XP_005256176.1:n.738+69_738+70insCCAGA
NM_000339.3:c.741+69_741+70insCCAGA	NP_000330.3:n.741+69_741+70insCCAGA
NM_001126107.2:c.738+69_738+70insCCAGA	NP_001119579.2:n.738+69_738+70insCCAGA
NM_001126108.2:c.741+69_741+70insCCAGA MANE Select	NP_001119580.2:n.741+69_741+70insCCAGA