Canonical Allele Identifier: CA2224364989

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902788_56902789delinsTC , CM000678.2:g.56902788_56902789delinsTC	GRCh38
NC_000016.9:g.56936700_56936701delinsTC , CM000678.1:g.56936700_56936701delinsTC	GRCh37
NC_000016.8:g.55494201_55494202delinsTC	NCBI36
NG_009386.1:g.42582_42583delinsTC
NG_009386.2:g.42582_42583delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2856+280_2856+281delinsTC MANE Select	ENSP00000456149.2:n.2856+280_2856+281delinsTC
ENST00000262502.5:c.2853+280_2853+281delinsTC	ENSP00000262502.5:n.2853+280_2853+281delinsTC
ENST00000438926.6:c.2883+280_2883+281delinsTC	ENSP00000402152.2:n.2883+280_2883+281delinsTC
ENST00000563236.5:c.2856+280_2856+281delinsTC	ENSP00000456149.1:n.2856+280_2856+281delinsTC
ENST00000566786.5:c.2880+280_2880+281delinsTC	ENSP00000457552.1:n.2880+280_2880+281delinsTC
ENST00000569002.1:n.287+280_287+281delinsTC
NM_000339.2:c.2883+280_2883+281delinsTC	NP_000330.2:n.2883+280_2883+281delinsTC
NM_001126107.1:c.2880+280_2880+281delinsTC	NP_001119579.1:n.2880+280_2880+281delinsTC
NM_001126108.1:c.2856+280_2856+281delinsTC	NP_001119580.1:n.2856+280_2856+281delinsTC
XM_005256119.1:c.2853+280_2853+281delinsTC	XP_005256176.1:n.2853+280_2853+281delinsTC
XM_005256119.2:c.2853+280_2853+281delinsTC	XP_005256176.1:n.2853+280_2853+281delinsTC
NM_000339.3:c.2883+280_2883+281delinsTC	NP_000330.3:n.2883+280_2883+281delinsTC
NM_001126107.2:c.2880+280_2880+281delinsTC	NP_001119579.2:n.2880+280_2880+281delinsTC
NM_001126108.2:c.2856+280_2856+281delinsTC MANE Select	NP_001119580.2:n.2856+280_2856+281delinsTC