Canonical Allele Identifier: CA2224355928
Gene: SLC12A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56883622_56883623delinsAC , CM000678.2:g.56883622_56883623delinsAC GRCh38
NC_000016.9:g.56917534_56917535delinsAC , CM000678.1:g.56917534_56917535delinsAC GRCh37
NC_000016.8:g.55475035_55475036delinsAC NCBI36
NG_009386.1:g.23416_23417delinsAC
NG_009386.2:g.23416_23417delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.1670-427_1670-426delinsAC MANE Select ENSP00000456149.2:n.1670-427_1670-426delinsAC
ENST00000262502.5:c.1667-427_1667-426delinsAC ENSP00000262502.5:n.1667-427_1667-426delinsAC
ENST00000438926.6:c.1670-427_1670-426delinsAC ENSP00000402152.2:n.1670-427_1670-426delinsAC
ENST00000563236.5:c.1670-427_1670-426delinsAC ENSP00000456149.1:n.1670-427_1670-426delinsAC
ENST00000566786.5:c.1667-427_1667-426delinsAC ENSP00000457552.1:n.1667-427_1667-426delinsAC
NM_000339.2:c.1670-427_1670-426delinsAC NP_000330.2:n.1670-427_1670-426delinsAC
NM_001126107.1:c.1667-427_1667-426delinsAC NP_001119579.1:n.1667-427_1667-426delinsAC
NM_001126108.1:c.1670-427_1670-426delinsAC NP_001119580.1:n.1670-427_1670-426delinsAC
XM_005256119.1:c.1667-427_1667-426delinsAC XP_005256176.1:n.1667-427_1667-426delinsAC
XM_005256119.2:c.1667-427_1667-426delinsAC XP_005256176.1:n.1667-427_1667-426delinsAC
NM_000339.3:c.1670-427_1670-426delinsAC NP_000330.3:n.1670-427_1670-426delinsAC
NM_001126107.2:c.1667-427_1667-426delinsAC NP_001119579.2:n.1667-427_1667-426delinsAC
NM_001126108.2:c.1670-427_1670-426delinsAC MANE Select NP_001119580.2:n.1670-427_1670-426delinsAC