Canonical Allele Identifier: CA2224361281

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894663_56894664delinsTG , CM000678.2:g.56894663_56894664delinsTG	GRCh38
NC_000016.9:g.56928575_56928576delinsTG , CM000678.1:g.56928575_56928576delinsTG	GRCh37
NC_000016.8:g.55486076_55486077delinsTG	NCBI36
NG_009386.1:g.34457_34458delinsTG
NG_009386.2:g.34457_34458delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2633+21_2633+22delinsTG MANE Select	ENSP00000456149.2:n.2633+21_2633+22delinsTG
ENST00000262502.5:c.2630+21_2630+22delinsTG	ENSP00000262502.5:n.2630+21_2630+22delinsTG
ENST00000438926.6:c.2660+21_2660+22delinsTG	ENSP00000402152.2:n.2660+21_2660+22delinsTG
ENST00000563236.5:c.2633+21_2633+22delinsTG	ENSP00000456149.1:n.2633+21_2633+22delinsTG
ENST00000566786.5:c.2657+21_2657+22delinsTG	ENSP00000457552.1:n.2657+21_2657+22delinsTG
NM_000339.2:c.2660+21_2660+22delinsTG	NP_000330.2:n.2660+21_2660+22delinsTG
NM_001126107.1:c.2657+21_2657+22delinsTG	NP_001119579.1:n.2657+21_2657+22delinsTG
NM_001126108.1:c.2633+21_2633+22delinsTG	NP_001119580.1:n.2633+21_2633+22delinsTG
XM_005256119.1:c.2630+21_2630+22delinsTG	XP_005256176.1:n.2630+21_2630+22delinsTG
XM_005256119.2:c.2630+21_2630+22delinsTG	XP_005256176.1:n.2630+21_2630+22delinsTG
NM_000339.3:c.2660+21_2660+22delinsTG	NP_000330.3:n.2660+21_2660+22delinsTG
NM_001126107.2:c.2657+21_2657+22delinsTG	NP_001119579.2:n.2657+21_2657+22delinsTG
NM_001126108.2:c.2633+21_2633+22delinsTG MANE Select	NP_001119580.2:n.2633+21_2633+22delinsTG