Canonical Allele Identifier: CA2175391326

Gene: SLC12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48226493_48226496delinsATTC , CM000677.2:g.48226493_48226496delinsATTC	GRCh38
NC_000015.9:g.48518690_48518693delinsATTC , CM000677.1:g.48518690_48518693delinsATTC	GRCh37
NC_000015.8:g.46305982_46305985delinsATTC	NCBI36
NG_021301.1:g.25193_25196delinsATTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000686073.1:c.724+546_724+549delinsATTC	ENSP00000508901.1:n.724+546_724+549delinsATTC
ENST00000380993.8:c.646_649delinsATTC MANE Select	ENSP00000370381.3:p.Ile216=
ENST00000646012.1:c.784_787delinsATTC	ENSP00000495813.1:p.Ile262=
ENST00000647232.1:c.629-586_629-583delinsATTC	ENSP00000493875.1:n.629-586_629-583delinsATTC
ENST00000647546.1:c.646_649delinsATTC	ENSP00000495332.1:p.Ile216=
ENST00000330289.10:c.646_649delinsATTC	ENSP00000331550.6:p.Ile216=
ENST00000380993.7:c.646_649delinsATTC	ENSP00000370381.3:p.Ile216=
ENST00000396577.7:c.629-586_629-583delinsATTC	ENSP00000379822.3:n.629-586_629-583delinsATTC
ENST00000558252.5:n.4166_4169delinsATTC
ENST00000558405.5:c.646_649delinsATTC	ENSP00000453409.1:p.Ile216=
ENST00000559641.5:c.85_88delinsATTC	ENSP00000453230.1:p.Ile29=
ENST00000559723.2:n.97+546_97+549delinsATTC
ENST00000560692.5:n.2168_2171delinsATTC
ENST00000561127.5:c.85_88delinsATTC	ENSP00000453602.2:p.Ile29=
NM_000338.2:c.646_649delinsATTC	NP_000329.2:p.Ile216=
NM_001184832.1:c.629-586_629-583delinsATTC	NP_001171761.1:n.629-586_629-583delinsATTC
XM_005254605.1:c.646_649delinsATTC	XP_005254662.1:p.Ile216=
XM_005254606.1:c.724+546_724+549delinsATTC	XP_005254663.1:n.724+546_724+549delinsATTC
XM_006720656.1:c.646_649delinsATTC	XP_006720719.1:p.Ile216=
XR_931896.1:n.862_865delinsATTC
XM_005254606.2:c.724+546_724+549delinsATTC	XP_005254663.1:n.724+546_724+549delinsATTC
XR_001751524.2:n.364-963_364-960delinsGAAT
XR_001751525.1:n.364-963_364-960delinsGAAT
XR_002957762.1:n.364-963_364-960delinsGAAT
XR_932204.3:n.358-963_358-960delinsGAAT
NM_000338.3:c.646_649delinsATTC MANE Select	NP_000329.2:p.Ile216=
NM_001184832.2:c.629-586_629-583delinsATTC	NP_001171761.1:n.629-586_629-583delinsATTC
NM_001384136.1:c.724+546_724+549delinsATTC	NP_001371065.1:n.724+546_724+549delinsATTC