Canonical Allele Identifier: CA2628316730

Gene: SLC12A1

Linked Data

• gnomAD v4: 15-48229293-GTGGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48229295_48229299del , CM000677.2:g.48229295_48229299del	GRCh38
NC_000015.9:g.48521492_48521496del , CM000677.1:g.48521492_48521496del	GRCh37
NC_000015.8:g.46308784_46308788del	NCBI36
NG_021301.1:g.27995_27999del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.831_835del	ENSP00000508901.1:p.Gly278CysfsTer2
ENST00000380993.8:c.831_835del MANE Select	ENSP00000370381.3:p.Gly278CysfsTer2
ENST00000646012.1:c.969_973del	ENSP00000495813.1:p.Gly324CysfsTer2
ENST00000647232.1:c.831_835del	ENSP00000493875.1:p.Gly278CysfsTer2
ENST00000647546.1:c.831_835del	ENSP00000495332.1:p.Gly278CysfsTer2
ENST00000330289.10:c.831_835del	ENSP00000331550.6:p.Gly278CysfsTer2
ENST00000380993.7:c.831_835del	ENSP00000370381.3:p.Gly278CysfsTer2
ENST00000396577.7:c.831_835del	ENSP00000379822.3:p.Gly278CysfsTer2
ENST00000558252.5:n.4954_4958del
ENST00000558405.5:c.831_835del	ENSP00000453409.1:p.Gly278CysfsTer2
ENST00000559641.5:c.270_274del	ENSP00000453230.1:p.Gly91CysfsTer2
ENST00000559723.2:n.204_208del
ENST00000560692.5:n.4970_4974del
ENST00000561127.5:c.270_274del	ENSP00000453602.2:p.Gly91CysfsTer2
NM_000338.2:c.831_835del	NP_000329.2:p.Gly278CysfsTer2
NM_001184832.1:c.831_835del	NP_001171761.1:p.Gly278CysfsTer2
XM_005254605.1:c.927_931del	XP_005254662.1:p.Gly310CysfsTer2
XM_005254606.1:c.831_835del	XP_005254663.1:p.Gly278CysfsTer2
XM_006720656.1:c.927_931del	XP_006720719.1:p.Gly310CysfsTer2
XR_931896.1:n.1143_1147del
XR_932203.1:n.229+658_229+662del
XR_932204.1:n.222+658_222+662del
XM_005254606.2:c.831_835del	XP_005254663.1:p.Gly278CysfsTer2
XR_001751524.2:n.230+658_230+662del
XR_001751525.1:n.230+658_230+662del
XR_002957762.1:n.230+658_230+662del
XR_932204.3:n.224+658_224+662del
NM_000338.3:c.831_835del MANE Select	NP_000329.2:p.Gly278CysfsTer2
NM_001184832.2:c.831_835del	NP_001171761.1:p.Gly278CysfsTer2
NM_001384136.1:c.831_835del	NP_001371065.1:p.Gly278CysfsTer2