Canonical Allele Identifier: CA969546696

Gene: SLC12A1

Linked Data

• dbSNP Id: rs2041284793
• gnomAD v3: 15-48226289-A-AGAGAAC
• gnomAD v4: 15-48226289-A-AGAGAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48226289_48226290insGAGAAC , CM000677.2:g.48226289_48226290insGAGAAC	GRCh38
NC_000015.9:g.48518486_48518487insGAGAAC , CM000677.1:g.48518486_48518487insGAGAAC	GRCh37
NC_000015.8:g.46305778_46305779insGAGAAC	NCBI36
NG_021301.1:g.24989_24990insGAGAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.724+342_724+343insGAGAAC	ENSP00000508901.1:n.724+342_724+343insGAGAAC
ENST00000380993.8:c.629-187_629-186insGAGAAC MANE Select	ENSP00000370381.3:n.629-187_629-186insGAGAAC
ENST00000646012.1:c.767-187_767-186insGAGAAC	ENSP00000495813.1:n.767-187_767-186insGAGAAC
ENST00000647232.1:c.629-790_629-789insGAGAAC	ENSP00000493875.1:n.629-790_629-789insGAGAAC
ENST00000647546.1:c.629-187_629-186insGAGAAC	ENSP00000495332.1:n.629-187_629-186insGAGAAC
ENST00000330289.10:c.629-187_629-186insGAGAAC	ENSP00000331550.6:n.629-187_629-186insGAGAAC
ENST00000380993.7:c.629-187_629-186insGAGAAC	ENSP00000370381.3:n.629-187_629-186insGAGAAC
ENST00000396577.7:c.629-790_629-789insGAGAAC	ENSP00000379822.3:n.629-790_629-789insGAGAAC
ENST00000558252.5:n.3962_3963insGAGAAC
ENST00000558405.5:c.629-187_629-186insGAGAAC	ENSP00000453409.1:n.629-187_629-186insGAGAAC
ENST00000559641.5:c.68-187_68-186insGAGAAC	ENSP00000453230.1:n.68-187_68-186insGAGAAC
ENST00000559723.2:n.97+342_97+343insGAGAAC
ENST00000560692.5:n.1964_1965insGAGAAC
ENST00000561127.5:c.68-187_68-186insGAGAAC	ENSP00000453602.2:n.68-187_68-186insGAGAAC
NM_000338.2:c.629-187_629-186insGAGAAC	NP_000329.2:n.629-187_629-186insGAGAAC
NM_001184832.1:c.629-790_629-789insGAGAAC	NP_001171761.1:n.629-790_629-789insGAGAAC
XM_005254605.1:c.629-187_629-186insGAGAAC	XP_005254662.1:n.629-187_629-186insGAGAAC
XM_005254606.1:c.724+342_724+343insGAGAAC	XP_005254663.1:n.724+342_724+343insGAGAAC
XM_006720656.1:c.629-187_629-186insGAGAAC	XP_006720719.1:n.629-187_629-186insGAGAAC
XR_931896.1:n.845-187_845-186insGAGAAC
XM_005254606.2:c.724+342_724+343insGAGAAC	XP_005254663.1:n.724+342_724+343insGAGAAC
XR_001751524.2:n.364-757_364-756insGTTCTC
XR_001751525.1:n.364-757_364-756insGTTCTC
XR_002957762.1:n.364-757_364-756insGTTCTC
XR_932204.3:n.358-757_358-756insGTTCTC
NM_000338.3:c.629-187_629-186insGAGAAC MANE Select	NP_000329.2:n.629-187_629-186insGAGAAC
NM_001184832.2:c.629-790_629-789insGAGAAC	NP_001171761.1:n.629-790_629-789insGAGAAC
NM_001384136.1:c.724+342_724+343insGAGAAC	NP_001371065.1:n.724+342_724+343insGAGAAC