Canonical Allele Identifier: CA2224357156
Gene: SLC12A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56886311_56886312delinsAC , CM000678.2:g.56886311_56886312delinsAC GRCh38
NC_000016.9:g.56920223_56920224delinsAC , CM000678.1:g.56920223_56920224delinsAC GRCh37
NC_000016.8:g.55477724_55477725delinsAC NCBI36
NG_009386.1:g.26105_26106delinsAC
NG_009386.2:g.26105_26106delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000563236.6:c.1926-53_1926-52delinsAC MANE Select ENSP00000456149.2:n.1926-53_1926-52delinsAC
ENST00000262502.5:c.1923-53_1923-52delinsAC ENSP00000262502.5:n.1923-53_1923-52delinsAC
ENST00000438926.6:c.1926-53_1926-52delinsAC ENSP00000402152.2:n.1926-53_1926-52delinsAC
ENST00000563236.5:c.1926-53_1926-52delinsAC ENSP00000456149.1:n.1926-53_1926-52delinsAC
ENST00000566786.5:c.1923-53_1923-52delinsAC ENSP00000457552.1:n.1923-53_1923-52delinsAC
NM_000339.2:c.1926-53_1926-52delinsAC NP_000330.2:n.1926-53_1926-52delinsAC
NM_001126107.1:c.1923-53_1923-52delinsAC NP_001119579.1:n.1923-53_1923-52delinsAC
NM_001126108.1:c.1926-53_1926-52delinsAC NP_001119580.1:n.1926-53_1926-52delinsAC
XM_005256119.1:c.1923-53_1923-52delinsAC XP_005256176.1:n.1923-53_1923-52delinsAC
XM_005256119.2:c.1923-53_1923-52delinsAC XP_005256176.1:n.1923-53_1923-52delinsAC
NM_000339.3:c.1926-53_1926-52delinsAC NP_000330.3:n.1926-53_1926-52delinsAC
NM_001126107.2:c.1923-53_1923-52delinsAC NP_001119579.2:n.1923-53_1923-52delinsAC
NM_001126108.2:c.1926-53_1926-52delinsAC MANE Select NP_001119580.2:n.1926-53_1926-52delinsAC