Canonical Allele Identifier: CA2566530164

Gene: SLC12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48229192_48229195del , CM000677.2:g.48229192_48229195del	GRCh38
NC_000015.9:g.48521389_48521392del , CM000677.1:g.48521389_48521392del	GRCh37
NC_000015.8:g.46308681_46308684del	NCBI36
NG_021301.1:g.27892_27895del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.728_731del	ENSP00000508901.1:p.Gly243AlafsTer9
ENST00000380993.8:c.728_731del MANE Select	ENSP00000370381.3:p.Gly243AlafsTer9
ENST00000646012.1:c.866_869del	ENSP00000495813.1:p.Gly289AlafsTer9
ENST00000647232.1:c.728_731del	ENSP00000493875.1:p.Gly243AlafsTer9
ENST00000647546.1:c.728_731del	ENSP00000495332.1:p.Gly243AlafsTer9
ENST00000330289.10:c.728_731del	ENSP00000331550.6:p.Gly243AlafsTer9
ENST00000380993.7:c.728_731del	ENSP00000370381.3:p.Gly243AlafsTer9
ENST00000396577.7:c.728_731del	ENSP00000379822.3:p.Gly243AlafsTer9
ENST00000558252.5:n.4851_4854del
ENST00000558405.5:c.728_731del	ENSP00000453409.1:p.Gly243AlafsTer9
ENST00000559641.5:c.167_170del	ENSP00000453230.1:p.Gly56AlafsTer9
ENST00000559723.2:n.101_104del
ENST00000560692.5:n.4867_4870del
ENST00000561127.5:c.167_170del	ENSP00000453602.2:p.Gly56AlafsTer9
NM_000338.2:c.728_731del	NP_000329.2:p.Gly243AlafsTer9
NM_001184832.1:c.728_731del	NP_001171761.1:p.Gly243AlafsTer9
XM_005254605.1:c.824_827del	XP_005254662.1:p.Gly275AlafsTer9
XM_005254606.1:c.728_731del	XP_005254663.1:p.Gly243AlafsTer9
XM_006720656.1:c.824_827del	XP_006720719.1:p.Gly275AlafsTer9
XR_931896.1:n.1040_1043del
XR_932203.1:n.229+761_229+764del
XR_932204.1:n.222+761_222+764del
XM_005254606.2:c.728_731del	XP_005254663.1:p.Gly243AlafsTer9
XR_001751524.2:n.230+761_230+764del
XR_001751525.1:n.230+761_230+764del
XR_002957762.1:n.230+761_230+764del
XR_932204.3:n.224+761_224+764del
NM_000338.3:c.728_731del MANE Select	NP_000329.2:p.Gly243AlafsTer9
NM_001184832.2:c.728_731del	NP_001171761.1:p.Gly243AlafsTer9
NM_001384136.1:c.728_731del	NP_001371065.1:p.Gly243AlafsTer9