Canonical Allele Identifier: CA2224349504
Gene: SLC12A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56870577_56870578delinsTG , CM000678.2:g.56870577_56870578delinsTG GRCh38
NC_000016.9:g.56904489_56904490delinsTG , CM000678.1:g.56904489_56904490delinsTG GRCh37
NC_000016.8:g.55461990_55461991delinsTG NCBI36
NG_009386.1:g.10371_10372delinsTG
NG_009386.2:g.10371_10372delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000563236.6:c.742-49_742-48delinsTG MANE Select ENSP00000456149.2:n.742-49_742-48delinsTG...
ENST00000262502.5:c.739-49_739-48delinsTG ENSP00000262502.5:n.739-49_739-48delinsTG...
ENST00000438926.6:c.742-49_742-48delinsTG ENSP00000402152.2:n.742-49_742-48delinsTG...
ENST00000563236.5:c.742-49_742-48delinsTG ENSP00000456149.1:n.742-49_742-48delinsTG...
ENST00000566786.5:c.739-49_739-48delinsTG ENSP00000457552.1:n.739-49_739-48delinsTG...
NM_000339.2:c.742-49_742-48delinsTG NP_000330.2:n.742-49_742-48delinsTG
NM_001126107.1:c.739-49_739-48delinsTG NP_001119579.1:n.739-49_739-48delinsTG
NM_001126108.1:c.742-49_742-48delinsTG NP_001119580.1:n.742-49_742-48delinsTG
XM_005256119.1:c.739-49_739-48delinsTG XP_005256176.1:n.739-49_739-48delinsTG
XM_005256119.2:c.739-49_739-48delinsTG XP_005256176.1:n.739-49_739-48delinsTG
NM_000339.3:c.742-49_742-48delinsTG NP_000330.3:n.742-49_742-48delinsTG
NM_001126107.2:c.739-49_739-48delinsTG NP_001119579.2:n.739-49_739-48delinsTG
NM_001126108.2:c.742-49_742-48delinsTG MANE Select NP_001119580.2:n.742-49_742-48delinsTG