Canonical Allele Identifier: CA2540166167

Gene: SLC12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48229176_48229177insAC , CM000677.2:g.48229176_48229177insAC	GRCh38
NC_000015.9:g.48521373_48521374insAC , CM000677.1:g.48521373_48521374insAC	GRCh37
NC_000015.8:g.46308665_46308666insAC	NCBI36
NG_021301.1:g.27876_27877insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.725-13_725-12insAC	ENSP00000508901.1:n.725-13_725-12insAC
ENST00000380993.8:c.725-13_725-12insAC MANE Select	ENSP00000370381.3:n.725-13_725-12insAC
ENST00000646012.1:c.863-13_863-12insAC	ENSP00000495813.1:n.863-13_863-12insAC
ENST00000647232.1:c.725-13_725-12insAC	ENSP00000493875.1:n.725-13_725-12insAC
ENST00000647546.1:c.725-13_725-12insAC	ENSP00000495332.1:n.725-13_725-12insAC
ENST00000330289.10:c.725-13_725-12insAC	ENSP00000331550.6:n.725-13_725-12insAC
ENST00000380993.7:c.725-13_725-12insAC	ENSP00000370381.3:n.725-13_725-12insAC
ENST00000396577.7:c.725-13_725-12insAC	ENSP00000379822.3:n.725-13_725-12insAC
ENST00000558252.5:n.4848-13_4848-12insAC
ENST00000558405.5:c.725-13_725-12insAC	ENSP00000453409.1:n.725-13_725-12insAC
ENST00000559641.5:c.164-13_164-12insAC	ENSP00000453230.1:n.164-13_164-12insAC
ENST00000559723.2:n.98-13_98-12insAC
ENST00000560692.5:n.4851_4852insAC
ENST00000561127.5:c.164-13_164-12insAC	ENSP00000453602.2:n.164-13_164-12insAC
NM_000338.2:c.725-13_725-12insAC	NP_000329.2:n.725-13_725-12insAC
NM_001184832.1:c.725-13_725-12insAC	NP_001171761.1:n.725-13_725-12insAC
XM_005254605.1:c.821-13_821-12insAC	XP_005254662.1:n.821-13_821-12insAC
XM_005254606.1:c.725-13_725-12insAC	XP_005254663.1:n.725-13_725-12insAC
XM_006720656.1:c.821-13_821-12insAC	XP_006720719.1:n.821-13_821-12insAC
XR_931896.1:n.1037-13_1037-12insAC
XR_932203.1:n.229+779_229+780insGT
XR_932204.1:n.222+779_222+780insGT
XM_005254606.2:c.725-13_725-12insAC	XP_005254663.1:n.725-13_725-12insAC
XR_001751524.2:n.230+779_230+780insGT
XR_001751525.1:n.230+779_230+780insGT
XR_002957762.1:n.230+779_230+780insGT
XR_932204.3:n.224+779_224+780insGT
NM_000338.3:c.725-13_725-12insAC MANE Select	NP_000329.2:n.725-13_725-12insAC
NM_001184832.2:c.725-13_725-12insAC	NP_001171761.1:n.725-13_725-12insAC
NM_001384136.1:c.725-13_725-12insAC	NP_001371065.1:n.725-13_725-12insAC