Canonical Allele Identifier: CA2224368053

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56913246_56913247delinsCT , CM000678.2:g.56913246_56913247delinsCT	GRCh38
NC_000016.9:g.56947158_56947159delinsCT , CM000678.1:g.56947158_56947159delinsCT	GRCh37
NC_000016.8:g.55504659_55504660delinsCT	NCBI36
NG_009386.1:g.53040_53041delinsCT
NG_009386.2:g.53040_53041delinsCT

Transcript Alleles

HGVS	Amino-acid Change
NM_001126108.2:c.2925-18_2925-17delinsCT MANE Select	NP_001119580.2:n.2925-18_2925-17delinsCT
ENST00000563236.6:c.2925-18_2925-17delinsCT MANE Select	ENSP00000456149.2:n.2925-18_2925-17delinsCT
NM_000339.2:c.2952-18_2952-17delinsCT	NP_000330.2:n.2952-18_2952-17delinsCT
NM_000339.3:c.2952-18_2952-17delinsCT	NP_000330.3:n.2952-18_2952-17delinsCT
NM_001126107.1:c.2949-18_2949-17delinsCT	NP_001119579.1:n.2949-18_2949-17delinsCT
NM_001126107.2:c.2949-18_2949-17delinsCT	NP_001119579.2:n.2949-18_2949-17delinsCT
NM_001126108.1:c.2925-18_2925-17delinsCT	NP_001119580.1:n.2925-18_2925-17delinsCT
ENST00000262502.5:c.2922-18_2922-17delinsCT	ENSP00000262502.5:n.2922-18_2922-17delinsCT
ENST00000438926.6:c.2952-18_2952-17delinsCT	ENSP00000402152.2:n.2952-18_2952-17delinsCT
ENST00000563236.5:c.2925-18_2925-17delinsCT	ENSP00000456149.1:n.2925-18_2925-17delinsCT
ENST00000563352.1:n.73-18_73-17delinsCT
ENST00000566786.5:c.2949-18_2949-17delinsCT	ENSP00000457552.1:n.2949-18_2949-17delinsCT
XM_005256119.1:c.2922-18_2922-17delinsCT	XP_005256176.1:n.2922-18_2922-17delinsCT
XM_005256119.2:c.2922-18_2922-17delinsCT	XP_005256176.1:n.2922-18_2922-17delinsCT