Canonical Allele Identifier: CA2628314705

Gene: SLC12A1

Linked Data

• gnomAD v4: 15-48226478-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48226480del , CM000677.2:g.48226480del	GRCh38
NC_000015.9:g.48518677del , CM000677.1:g.48518677del	GRCh37
NC_000015.8:g.46305969del	NCBI36
NG_021301.1:g.25180del

Transcript Alleles

HGVS	Amino-acid change
ENST00000686073.1:c.724+533del	ENSP00000508901.1:n.724+533del
ENST00000380993.8:c.633del MANE Select	ENSP00000370381.3:p.Gly212GlufsTer4
ENST00000646012.1:c.771del	ENSP00000495813.1:p.Gly258GlufsTer4
ENST00000647232.1:c.629-599del	ENSP00000493875.1:n.629-599del
ENST00000647546.1:c.633del	ENSP00000495332.1:p.Gly212GlufsTer4
ENST00000330289.10:c.633del	ENSP00000331550.6:p.Gly212GlufsTer4
ENST00000380993.7:c.633del	ENSP00000370381.3:p.Gly212GlufsTer4
ENST00000396577.7:c.629-599del	ENSP00000379822.3:n.629-599del
ENST00000558252.5:n.4153del
ENST00000558405.5:c.633del	ENSP00000453409.1:p.Gly212GlufsTer4
ENST00000559641.5:c.72del	ENSP00000453230.1:p.Gly25GlufsTer4
ENST00000559723.2:n.97+533del
ENST00000560692.5:n.2155del
ENST00000561127.5:c.72del	ENSP00000453602.2:p.Gly25GlufsTer4
NM_000338.2:c.633del	NP_000329.2:p.Gly212GlufsTer4
NM_001184832.1:c.629-599del	NP_001171761.1:n.629-599del
XM_005254605.1:c.633del	XP_005254662.1:p.Gly212GlufsTer4
XM_005254606.1:c.724+533del	XP_005254663.1:n.724+533del
XM_006720656.1:c.633del	XP_006720719.1:p.Gly212GlufsTer4
XR_931896.1:n.849del
XM_005254606.2:c.724+533del	XP_005254663.1:n.724+533del
XR_001751524.2:n.364-946del
XR_001751525.1:n.364-946del
XR_002957762.1:n.364-946del
XR_932204.3:n.358-946del
NM_000338.3:c.633del MANE Select	NP_000329.2:p.Gly212GlufsTer4
NM_001184832.2:c.629-599del	NP_001171761.1:n.629-599del
NM_001384136.1:c.724+533del	NP_001371065.1:n.724+533del