Canonical Allele Identifier: CA2541075832
Gene: SLC12A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48229179_48229180insACA , CM000677.2:g.48229179_48229180insACA GRCh38
NC_000015.9:g.48521376_48521377insACA , CM000677.1:g.48521376_48521377insACA GRCh37
NC_000015.8:g.46308668_46308669insACA NCBI36
NG_021301.1:g.27879_27880insACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000686073.1:c.725-10_725-9insACA ENSP00000508901.1:n.725-10_725-9insACA
ENST00000380993.8:c.725-10_725-9insACA MANE Select ENSP00000370381.3:n.725-10_725-9insACA
ENST00000646012.1:c.863-10_863-9insACA ENSP00000495813.1:n.863-10_863-9insACA
ENST00000647232.1:c.725-10_725-9insACA ENSP00000493875.1:n.725-10_725-9insACA
ENST00000647546.1:c.725-10_725-9insACA ENSP00000495332.1:n.725-10_725-9insACA
ENST00000330289.10:c.725-10_725-9insACA ENSP00000331550.6:n.725-10_725-9insACA
ENST00000380993.7:c.725-10_725-9insACA ENSP00000370381.3:n.725-10_725-9insACA
ENST00000396577.7:c.725-10_725-9insACA ENSP00000379822.3:n.725-10_725-9insACA
ENST00000558252.5:n.4848-10_4848-9insACA
ENST00000558405.5:c.725-10_725-9insACA ENSP00000453409.1:n.725-10_725-9insACA
ENST00000559641.5:c.164-10_164-9insACA ENSP00000453230.1:n.164-10_164-9insACA
ENST00000559723.2:n.98-10_98-9insACA
ENST00000560692.5:n.4854_4855insACA
ENST00000561127.5:c.164-10_164-9insACA ENSP00000453602.2:n.164-10_164-9insACA
NM_000338.2:c.725-10_725-9insACA NP_000329.2:n.725-10_725-9insACA
NM_001184832.1:c.725-10_725-9insACA NP_001171761.1:n.725-10_725-9insACA
XM_005254605.1:c.821-10_821-9insACA XP_005254662.1:n.821-10_821-9insACA
XM_005254606.1:c.725-10_725-9insACA XP_005254663.1:n.725-10_725-9insACA
XM_006720656.1:c.821-10_821-9insACA XP_006720719.1:n.821-10_821-9insACA
XR_931896.1:n.1037-10_1037-9insACA
XR_932203.1:n.229+776_229+777insTGT
XR_932204.1:n.222+776_222+777insTGT
XM_005254606.2:c.725-10_725-9insACA XP_005254663.1:n.725-10_725-9insACA
XR_001751524.2:n.230+776_230+777insTGT
XR_001751525.1:n.230+776_230+777insTGT
XR_002957762.1:n.230+776_230+777insTGT
XR_932204.3:n.224+776_224+777insTGT
NM_000338.3:c.725-10_725-9insACA MANE Select NP_000329.2:n.725-10_725-9insACA
NM_001184832.2:c.725-10_725-9insACA NP_001171761.1:n.725-10_725-9insACA
NM_001384136.1:c.725-10_725-9insACA NP_001371065.1:n.725-10_725-9insACA