Canonical Allele Identifier: CA2224361173

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894458_56894459delinsCG , CM000678.2:g.56894458_56894459delinsCG	GRCh38
NC_000016.9:g.56928370_56928371delinsCG , CM000678.1:g.56928370_56928371delinsCG	GRCh37
NC_000016.8:g.55485871_55485872delinsCG	NCBI36
NG_009386.1:g.34252_34253delinsCG
NG_009386.2:g.34252_34253delinsCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.2522-73_2522-72delinsCG MANE Select	ENSP00000456149.2:n.2522-73_2522-72delins...
ENST00000262502.5:c.2519-73_2519-72delinsCG	ENSP00000262502.5:n.2519-73_2519-72delins...
ENST00000438926.6:c.2549-73_2549-72delinsCG	ENSP00000402152.2:n.2549-73_2549-72delins...
ENST00000563236.5:c.2522-73_2522-72delinsCG	ENSP00000456149.1:n.2522-73_2522-72delins...
ENST00000566786.5:c.2546-73_2546-72delinsCG	ENSP00000457552.1:n.2546-73_2546-72delins...
NM_000339.2:c.2549-73_2549-72delinsCG	NP_000330.2:n.2549-73_2549-72delinsCG
NM_001126107.1:c.2546-73_2546-72delinsCG	NP_001119579.1:n.2546-73_2546-72delinsCG
NM_001126108.1:c.2522-73_2522-72delinsCG	NP_001119580.1:n.2522-73_2522-72delinsCG
XM_005256119.1:c.2519-73_2519-72delinsCG	XP_005256176.1:n.2519-73_2519-72delinsCG
XM_005256119.2:c.2519-73_2519-72delinsCG	XP_005256176.1:n.2519-73_2519-72delinsCG
NM_000339.3:c.2549-73_2549-72delinsCG	NP_000330.3:n.2549-73_2549-72delinsCG
NM_001126107.2:c.2546-73_2546-72delinsCG	NP_001119579.2:n.2546-73_2546-72delinsCG
NM_001126108.2:c.2522-73_2522-72delinsCG MANE Select	NP_001119580.2:n.2522-73_2522-72delinsCG