Canonical Allele Identifier: CA2224349348
Gene: SLC12A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56870243_56870244delinsCG , CM000678.2:g.56870243_56870244delinsCG GRCh38
NC_000016.9:g.56904155_56904156delinsCG , CM000678.1:g.56904155_56904156delinsCG GRCh37
NC_000016.8:g.55461656_55461657delinsCG NCBI36
NG_009386.1:g.10037_10038delinsCG
NG_009386.2:g.10037_10038delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.741+8_741+9delinsCG MANE Select ENSP00000456149.2:n.741+8_741+9delinsCG
ENST00000262502.5:c.738+8_738+9delinsCG ENSP00000262502.5:n.738+8_738+9delinsCG
ENST00000438926.6:c.741+8_741+9delinsCG ENSP00000402152.2:n.741+8_741+9delinsCG
ENST00000563236.5:c.741+8_741+9delinsCG ENSP00000456149.1:n.741+8_741+9delinsCG
ENST00000566786.5:c.738+8_738+9delinsCG ENSP00000457552.1:n.738+8_738+9delinsCG
NM_000339.2:c.741+8_741+9delinsCG NP_000330.2:n.741+8_741+9delinsCG
NM_001126107.1:c.738+8_738+9delinsCG NP_001119579.1:n.738+8_738+9delinsCG
NM_001126108.1:c.741+8_741+9delinsCG NP_001119580.1:n.741+8_741+9delinsCG
XM_005256119.1:c.738+8_738+9delinsCG XP_005256176.1:n.738+8_738+9delinsCG
XM_005256119.2:c.738+8_738+9delinsCG XP_005256176.1:n.738+8_738+9delinsCG
NM_000339.3:c.741+8_741+9delinsCG NP_000330.3:n.741+8_741+9delinsCG
NM_001126107.2:c.738+8_738+9delinsCG NP_001119579.2:n.738+8_738+9delinsCG
NM_001126108.2:c.741+8_741+9delinsCG MANE Select NP_001119580.2:n.741+8_741+9delinsCG