Canonical Allele Identifier: CA2628316673

Gene: SLC12A1

Linked Data

• gnomAD v4: 15-48229190-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48229194del , CM000677.2:g.48229194del	GRCh38
NC_000015.9:g.48521391del , CM000677.1:g.48521391del	GRCh37
NC_000015.8:g.46308683del	NCBI36
NG_021301.1:g.27894del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.730del	ENSP00000508901.1:p.Ala244ProfsTer9
ENST00000380993.8:c.730del MANE Select	ENSP00000370381.3:p.Ala244ProfsTer9
ENST00000646012.1:c.868del	ENSP00000495813.1:p.Ala290ProfsTer9
ENST00000647232.1:c.730del	ENSP00000493875.1:p.Ala244ProfsTer9
ENST00000647546.1:c.730del	ENSP00000495332.1:p.Ala244ProfsTer9
ENST00000330289.10:c.730del	ENSP00000331550.6:p.Ala244ProfsTer9
ENST00000380993.7:c.730del	ENSP00000370381.3:p.Ala244ProfsTer9
ENST00000396577.7:c.730del	ENSP00000379822.3:p.Ala244ProfsTer9
ENST00000558252.5:n.4853del
ENST00000558405.5:c.730del	ENSP00000453409.1:p.Ala244ProfsTer9
ENST00000559641.5:c.169del	ENSP00000453230.1:p.Ala57ProfsTer9
ENST00000559723.2:n.103del
ENST00000560692.5:n.4869del
ENST00000561127.5:c.169del	ENSP00000453602.2:p.Ala57ProfsTer9
NM_000338.2:c.730del	NP_000329.2:p.Ala244ProfsTer9
NM_001184832.1:c.730del	NP_001171761.1:p.Ala244ProfsTer9
XM_005254605.1:c.826del	XP_005254662.1:p.Ala276ProfsTer9
XM_005254606.1:c.730del	XP_005254663.1:p.Ala244ProfsTer9
XM_006720656.1:c.826del	XP_006720719.1:p.Ala276ProfsTer9
XR_931896.1:n.1042del
XR_932203.1:n.229+765del
XR_932204.1:n.222+765del
XM_005254606.2:c.730del	XP_005254663.1:p.Ala244ProfsTer9
XR_001751524.2:n.230+765del
XR_001751525.1:n.230+765del
XR_002957762.1:n.230+765del
XR_932204.3:n.224+765del
NM_000338.3:c.730del MANE Select	NP_000329.2:p.Ala244ProfsTer9
NM_001184832.2:c.730del	NP_001171761.1:p.Ala244ProfsTer9
NM_001384136.1:c.730del	NP_001371065.1:p.Ala244ProfsTer9