Canonical Allele Identifier: CA2224357321

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56886619_56886633delinsGCCTGGGTGTGATGT , CM000678.2:g.56886619_56886633delinsGCCTGGGTGTGATGT	GRCh38
NC_000016.9:g.56920531_56920545delinsGCCTGGGTGTGATGT , CM000678.1:g.56920531_56920545delinsGCCTGGGTGTGATGT	GRCh37
NC_000016.8:g.55478032_55478046delinsGCCTGGGTGTGATGT	NCBI36
NG_009386.1:g.26413_26427delinsGCCTGGGTGTGATGT
NG_009386.2:g.26413_26427delinsGCCTGGGTGTGATGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2037+144_2037+158delinsGCCTGGGTGTGATGT MANE Select	ENSP00000456149.2:n.2037+144_2037+158delinsGCCTGGGTGTGATGT
ENST00000262502.5:c.2034+144_2034+158delinsGCCTGGGTGTGATGT	ENSP00000262502.5:n.2034+144_2034+158delinsGCCTGGGTGTGATGT
ENST00000438926.6:c.2037+144_2037+158delinsGCCTGGGTGTGATGT	ENSP00000402152.2:n.2037+144_2037+158delinsGCCTGGGTGTGATGT
ENST00000563236.5:c.2037+144_2037+158delinsGCCTGGGTGTGATGT	ENSP00000456149.1:n.2037+144_2037+158delinsGCCTGGGTGTGATGT
ENST00000566786.5:c.2034+144_2034+158delinsGCCTGGGTGTGATGT	ENSP00000457552.1:n.2034+144_2034+158delinsGCCTGGGTGTGATGT
NM_000339.2:c.2037+144_2037+158delinsGCCTGGGTGTGATGT	NP_000330.2:n.2037+144_2037+158delinsGCCTGGGTGTGATGT
NM_001126107.1:c.2034+144_2034+158delinsGCCTGGGTGTGATGT	NP_001119579.1:n.2034+144_2034+158delinsGCCTGGGTGTGATGT
NM_001126108.1:c.2037+144_2037+158delinsGCCTGGGTGTGATGT	NP_001119580.1:n.2037+144_2037+158delinsGCCTGGGTGTGATGT
XM_005256119.1:c.2034+144_2034+158delinsGCCTGGGTGTGATGT	XP_005256176.1:n.2034+144_2034+158delinsGCCTGGGTGTGATGT
XM_005256119.2:c.2034+144_2034+158delinsGCCTGGGTGTGATGT	XP_005256176.1:n.2034+144_2034+158delinsGCCTGGGTGTGATGT
NM_000339.3:c.2037+144_2037+158delinsGCCTGGGTGTGATGT	NP_000330.3:n.2037+144_2037+158delinsGCCTGGGTGTGATGT
NM_001126107.2:c.2034+144_2034+158delinsGCCTGGGTGTGATGT	NP_001119579.2:n.2034+144_2034+158delinsGCCTGGGTGTGATGT
NM_001126108.2:c.2037+144_2037+158delinsGCCTGGGTGTGATGT MANE Select	NP_001119580.2:n.2037+144_2037+158delinsGCCTGGGTGTGATGT