Canonical Allele Identifier: CA2633375528

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56902310-C-CCTGGCACCCCTAGAAATGGGGTGCCAGGTCCCTGCGGGGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902332_56902333insGCCAGGTCCCTGCGGGGAGCTGGCACCCCTAGAAATGGGGT , CM000678.2:g.56902332_56902333insGCCAGGTCCCTGCGGGGAGCTGGCACCCCTAGAAATGGGGT	GRCh38
NC_000016.9:g.56936244_56936245insGCCAGGTCCCTGCGGGGAGCTGGCACCCCTAGAAATGGGGT , CM000678.1:g.56936244_56936245insGCCAGGTCCCTGCGGGGAGCTGGCACCCCTAGAAATGGGGT	GRCh37
NC_000016.8:g.55493745_55493746insGCCAGGTCCCTGCGGGGAGCTGGCACCCCTAGAAATGGGGT	NCBI36
NG_009386.1:g.42126_42127insGCCAGGTCCCTGCGGGGAGCTGGCACCCCTAGAAATGGGGT
NG_009386.2:g.42126_42127insGCCAGGTCCCTGCGGGGAGCTGGCACCCCTAGAAATGGGGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.2721-41_2721-40insGCCAGGTCCCTGCGGGGAGCTGGCACCCCTAGAAATGGGGT MANE Select	ENSP00000456149.2:n.2721-41_2721-40insGCCAGGTCCCTGCGGGGAGCTGG...
ENST00000262502.5:c.2718-41_2718-40insGCCAGGTCCCTGCGGGGAGCTGGCACCCCTAGAAATGGGGT	ENSP00000262502.5:n.2718-41_2718-40insGCCAGGTCCCTGCGGGGAGCTGG...
ENST00000438926.6:c.2748-41_2748-40insGCCAGGTCCCTGCGGGGAGCTGGCACCCCTAGAAATGGGGT	ENSP00000402152.2:n.2748-41_2748-40insGCCAGGTCCCTGCGGGGAGCTGG...
ENST00000563236.5:c.2721-41_2721-40insGCCAGGTCCCTGCGGGGAGCTGGCACCCCTAGAAATGGGGT	ENSP00000456149.1:n.2721-41_2721-40insGCCAGGTCCCTGCGGGGAGCTGG...
ENST00000566786.5:c.2745-41_2745-40insGCCAGGTCCCTGCGGGGAGCTGGCACCCCTAGAAATGGGGT	ENSP00000457552.1:n.2745-41_2745-40insGCCAGGTCCCTGCGGGGAGCTGG...
ENST00000569002.1:n.111_112insGCCAGGTCCCTGCGGGGAGCTGGCACCCCTAGAAATGGGGT
NM_000339.2:c.2748-41_2748-40insGCCAGGTCCCTGCGGGGAGCTGGCACCCCTAGAAATGGGGT	NP_000330.2:n.2748-41_2748-40insGCCAGGTCCCTGCGGGGAGCTGGCACCCC...
NM_001126107.1:c.2745-41_2745-40insGCCAGGTCCCTGCGGGGAGCTGGCACCCCTAGAAATGGGGT	NP_001119579.1:n.2745-41_2745-40insGCCAGGTCCCTGCGGGGAGCTGGCAC...
NM_001126108.1:c.2721-41_2721-40insGCCAGGTCCCTGCGGGGAGCTGGCACCCCTAGAAATGGGGT	NP_001119580.1:n.2721-41_2721-40insGCCAGGTCCCTGCGGGGAGCTGGCAC...
XM_005256119.1:c.2718-41_2718-40insGCCAGGTCCCTGCGGGGAGCTGGCACCCCTAGAAATGGGGT	XP_005256176.1:n.2718-41_2718-40insGCCAGGTCCCTGCGGGGAGCTGGCAC...
XM_005256119.2:c.2718-41_2718-40insGCCAGGTCCCTGCGGGGAGCTGGCACCCCTAGAAATGGGGT	XP_005256176.1:n.2718-41_2718-40insGCCAGGTCCCTGCGGGGAGCTGGCAC...
NM_000339.3:c.2748-41_2748-40insGCCAGGTCCCTGCGGGGAGCTGGCACCCCTAGAAATGGGGT	NP_000330.3:n.2748-41_2748-40insGCCAGGTCCCTGCGGGGAGCTGGCACCCC...
NM_001126107.2:c.2745-41_2745-40insGCCAGGTCCCTGCGGGGAGCTGGCACCCCTAGAAATGGGGT	NP_001119579.2:n.2745-41_2745-40insGCCAGGTCCCTGCGGGGAGCTGGCAC...
NM_001126108.2:c.2721-41_2721-40insGCCAGGTCCCTGCGGGGAGCTGGCACCCCTAGAAATGGGGT MANE Select	NP_001119580.2:n.2721-41_2721-40insGCCAGGTCCCTGCGGGGAGCTGGCAC...