Canonical Allele Identifier: CA2175391424
Gene: SLC12A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48226546_48226561delinsAGCAACTAACGGGTTT , CM000677.2:g.48226546_48226561delinsAGCAACTAACGGGTTT GRCh38
NC_000015.9:g.48518743_48518758delinsAGCAACTAACGGGTTT , CM000677.1:g.48518743_48518758delinsAGCAACTAACGGGTTT GRCh37
NC_000015.8:g.46306035_46306050delinsAGCAACTAACGGGTTT NCBI36
NG_021301.1:g.25246_25261delinsAGCAACTAACGGGTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000686073.1:c.724+599_724+614delinsAGCAACTAACGGGTTT ENSP00000508901.1:n.724+599_724+614delinsAGCAACTAACGGGTTT
ENST00000380993.8:c.699_714delinsAGCAACTAACGGGTTT MANE Select ENSP00000370381.3:p.Ile233=
ENST00000646012.1:c.837_852delinsAGCAACTAACGGGTTT ENSP00000495813.1:p.Ile279=
ENST00000647232.1:c.629-533_629-518delinsAGCAACTAACGGGTTT ENSP00000493875.1:n.629-533_629-518delinsAGCAACTAACGGGTTT
ENST00000647546.1:c.699_714delinsAGCAACTAACGGGTTT ENSP00000495332.1:p.Ile233=
ENST00000330289.10:c.699_714delinsAGCAACTAACGGGTTT ENSP00000331550.6:p.Ile233=
ENST00000380993.7:c.699_714delinsAGCAACTAACGGGTTT ENSP00000370381.3:p.Ile233=
ENST00000396577.7:c.629-533_629-518delinsAGCAACTAACGGGTTT ENSP00000379822.3:n.629-533_629-518delinsAGCAACTAACGGGTTT
ENST00000558252.5:n.4219_4234delinsAGCAACTAACGGGTTT
ENST00000558405.5:c.699_714delinsAGCAACTAACGGGTTT ENSP00000453409.1:p.Ile233=
ENST00000559641.5:c.138_153delinsAGCAACTAACGGGTTT ENSP00000453230.1:p.Ile46=
ENST00000559723.2:n.97+599_97+614delinsAGCAACTAACGGGTTT
ENST00000560692.5:n.2221_2236delinsAGCAACTAACGGGTTT
ENST00000561127.5:c.138_153delinsAGCAACTAACGGGTTT ENSP00000453602.2:p.Ile46=
NM_000338.2:c.699_714delinsAGCAACTAACGGGTTT NP_000329.2:p.Ile233=
NM_001184832.1:c.629-533_629-518delinsAGCAACTAACGGGTTT NP_001171761.1:n.629-533_629-518delinsAGCAACTAACGGGTTT
XM_005254605.1:c.699_714delinsAGCAACTAACGGGTTT XP_005254662.1:p.Ile233=
XM_005254606.1:c.724+599_724+614delinsAGCAACTAACGGGTTT XP_005254663.1:n.724+599_724+614delinsAGCAACTAACGGGTTT
XM_006720656.1:c.699_714delinsAGCAACTAACGGGTTT XP_006720719.1:p.Ile233=
XR_931896.1:n.915_930delinsAGCAACTAACGGGTTT
XM_005254606.2:c.724+599_724+614delinsAGCAACTAACGGGTTT XP_005254663.1:n.724+599_724+614delinsAGCAACTAACGGGTTT
XR_001751524.2:n.363+900_363+915delinsAAACCCGTTAGTTGCT
XR_001751525.1:n.363+900_363+915delinsAAACCCGTTAGTTGCT
XR_002957762.1:n.363+900_363+915delinsAAACCCGTTAGTTGCT
XR_932204.3:n.357+900_357+915delinsAAACCCGTTAGTTGCT
NM_000338.3:c.699_714delinsAGCAACTAACGGGTTT MANE Select NP_000329.2:p.Ile233=
NM_001184832.2:c.629-533_629-518delinsAGCAACTAACGGGTTT NP_001171761.1:n.629-533_629-518delinsAGCAACTAACGGGTTT
NM_001384136.1:c.724+599_724+614delinsAGCAACTAACGGGTTT NP_001371065.1:n.724+599_724+614delinsAGCAACTAACGGGTTT