Canonical Allele Identifier: CA2175394402

Gene: SLC12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48229345_48229346delinsCT , CM000677.2:g.48229345_48229346delinsCT	GRCh38
NC_000015.9:g.48521542_48521543delinsCT , CM000677.1:g.48521542_48521543delinsCT	GRCh37
NC_000015.8:g.46308834_46308835delinsCT	NCBI36
NG_021301.1:g.28045_28046delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000686073.1:c.864+17_864+18delinsCT	ENSP00000508901.1:n.864+17_864+18delinsCT...
ENST00000380993.8:c.864+17_864+18delinsCT MANE Select	ENSP00000370381.3:n.864+17_864+18delinsCT...
ENST00000646012.1:c.1002+17_1002+18delinsCT	ENSP00000495813.1:n.1002+17_1002+18delins...
ENST00000647232.1:c.864+17_864+18delinsCT	ENSP00000493875.1:n.864+17_864+18delinsCT...
ENST00000647546.1:c.864+17_864+18delinsCT	ENSP00000495332.1:n.864+17_864+18delinsCT...
ENST00000330289.10:c.864+17_864+18delinsCT	ENSP00000331550.6:n.864+17_864+18delinsCT...
ENST00000380993.7:c.864+17_864+18delinsCT	ENSP00000370381.3:n.864+17_864+18delinsCT...
ENST00000396577.7:c.864+17_864+18delinsCT	ENSP00000379822.3:n.864+17_864+18delinsCT...
ENST00000558252.5:n.4987+17_4987+18delinsCT
ENST00000558405.5:c.864+17_864+18delinsCT	ENSP00000453409.1:n.864+17_864+18delinsCT...
ENST00000559641.5:c.303+17_303+18delinsCT	ENSP00000453230.1:n.303+17_303+18delinsCT...
ENST00000559723.2:n.237+17_237+18delinsCT
ENST00000560692.5:n.5003+17_5003+18delinsCT
ENST00000561127.5:c.303+17_303+18delinsCT	ENSP00000453602.2:n.303+17_303+18delinsCT...
NM_000338.2:c.864+17_864+18delinsCT	NP_000329.2:n.864+17_864+18delinsCT
NM_001184832.1:c.864+17_864+18delinsCT	NP_001171761.1:n.864+17_864+18delinsCT
XM_005254605.1:c.960+17_960+18delinsCT	XP_005254662.1:n.960+17_960+18delinsCT
XM_005254606.1:c.864+17_864+18delinsCT	XP_005254663.1:n.864+17_864+18delinsCT
XM_006720656.1:c.960+17_960+18delinsCT	XP_006720719.1:n.960+17_960+18delinsCT
XR_931896.1:n.1176+17_1176+18delinsCT
XR_932203.1:n.229+610_229+611delinsAG
XR_932204.1:n.222+610_222+611delinsAG
XM_005254606.2:c.864+17_864+18delinsCT	XP_005254663.1:n.864+17_864+18delinsCT
XR_001751524.2:n.230+610_230+611delinsAG
XR_001751525.1:n.230+610_230+611delinsAG
XR_002957762.1:n.230+610_230+611delinsAG
XR_932204.3:n.224+610_224+611delinsAG
NM_000338.3:c.864+17_864+18delinsCT MANE Select	NP_000329.2:n.864+17_864+18delinsCT
NM_001184832.2:c.864+17_864+18delinsCT	NP_001171761.1:n.864+17_864+18delinsCT
NM_001384136.1:c.864+17_864+18delinsCT	NP_001371065.1:n.864+17_864+18delinsCT