Canonical Allele Identifier: CA2224357274
Gene: SLC12A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56886523_56886524delinsGC , CM000678.2:g.56886523_56886524delinsGC GRCh38
NC_000016.9:g.56920435_56920436delinsGC , CM000678.1:g.56920435_56920436delinsGC GRCh37
NC_000016.8:g.55477936_55477937delinsGC NCBI36
NG_009386.1:g.26317_26318delinsGC
NG_009386.2:g.26317_26318delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.2037+48_2037+49delinsGC MANE Select ENSP00000456149.2:n.2037+48_2037+49delinsGC
ENST00000262502.5:c.2034+48_2034+49delinsGC ENSP00000262502.5:n.2034+48_2034+49delinsGC
ENST00000438926.6:c.2037+48_2037+49delinsGC ENSP00000402152.2:n.2037+48_2037+49delinsGC
ENST00000563236.5:c.2037+48_2037+49delinsGC ENSP00000456149.1:n.2037+48_2037+49delinsGC
ENST00000566786.5:c.2034+48_2034+49delinsGC ENSP00000457552.1:n.2034+48_2034+49delinsGC
NM_000339.2:c.2037+48_2037+49delinsGC NP_000330.2:n.2037+48_2037+49delinsGC
NM_001126107.1:c.2034+48_2034+49delinsGC NP_001119579.1:n.2034+48_2034+49delinsGC
NM_001126108.1:c.2037+48_2037+49delinsGC NP_001119580.1:n.2037+48_2037+49delinsGC
XM_005256119.1:c.2034+48_2034+49delinsGC XP_005256176.1:n.2034+48_2034+49delinsGC
XM_005256119.2:c.2034+48_2034+49delinsGC XP_005256176.1:n.2034+48_2034+49delinsGC
NM_000339.3:c.2037+48_2037+49delinsGC NP_000330.3:n.2037+48_2037+49delinsGC
NM_001126107.2:c.2034+48_2034+49delinsGC NP_001119579.2:n.2034+48_2034+49delinsGC
NM_001126108.2:c.2037+48_2037+49delinsGC MANE Select NP_001119580.2:n.2037+48_2037+49delinsGC