Canonical Allele Identifier: CA2224356313
Gene: SLC12A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56884508_56884509delinsAG , CM000678.2:g.56884508_56884509delinsAG GRCh38
NC_000016.9:g.56918420_56918421delinsAG , CM000678.1:g.56918420_56918421delinsAG GRCh37
NC_000016.8:g.55475921_55475922delinsAG NCBI36
NG_009386.1:g.24302_24303delinsAG
NG_009386.2:g.24302_24303delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.1825+304_1825+305delinsAG MANE Select ENSP00000456149.2:n.1825+304_1825+305delinsAG
ENST00000262502.5:c.1822+304_1822+305delinsAG ENSP00000262502.5:n.1822+304_1822+305delinsAG
ENST00000438926.6:c.1825+304_1825+305delinsAG ENSP00000402152.2:n.1825+304_1825+305delinsAG
ENST00000563236.5:c.1825+304_1825+305delinsAG ENSP00000456149.1:n.1825+304_1825+305delinsAG
ENST00000566786.5:c.1822+304_1822+305delinsAG ENSP00000457552.1:n.1822+304_1822+305delinsAG
NM_000339.2:c.1825+304_1825+305delinsAG NP_000330.2:n.1825+304_1825+305delinsAG
NM_001126107.1:c.1822+304_1822+305delinsAG NP_001119579.1:n.1822+304_1822+305delinsAG
NM_001126108.1:c.1825+304_1825+305delinsAG NP_001119580.1:n.1825+304_1825+305delinsAG
XM_005256119.1:c.1822+304_1822+305delinsAG XP_005256176.1:n.1822+304_1822+305delinsAG
XM_005256119.2:c.1822+304_1822+305delinsAG XP_005256176.1:n.1822+304_1822+305delinsAG
NM_000339.3:c.1825+304_1825+305delinsAG NP_000330.3:n.1825+304_1825+305delinsAG
NM_001126107.2:c.1822+304_1822+305delinsAG NP_001119579.2:n.1822+304_1822+305delinsAG
NM_001126108.2:c.1825+304_1825+305delinsAG MANE Select NP_001119580.2:n.1825+304_1825+305delinsAG