Canonical Allele Identifier: CA2739290804

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870689_56870690insTTGGCGTGGTCTCGGTCG , CM000678.2:g.56870689_56870690insTTGGCGTGGTCTCGGTCG	GRCh38
NC_000016.9:g.56904601_56904602insTTGGCGTGGTCTCGGTCG , CM000678.1:g.56904601_56904602insTTGGCGTGGTCTCGGTCG	GRCh37
NC_000016.8:g.55462102_55462103insTTGGCGTGGTCTCGGTCG	NCBI36
NG_009386.1:g.10483_10484insTTGGCGTGGTCTCGGTCG
NG_009386.2:g.10483_10484insTTGGCGTGGTCTCGGTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.805_806insTTGGCGTGGTCTCGGTCG MANE Select	ENSP00000456149.2:p.Thr269delinsIleGlyValValSerValAla
ENST00000262502.5:c.802_803insTTGGCGTGGTCTCGGTCG	ENSP00000262502.5:p.Thr268delinsIleGlyValValSerValAla
ENST00000438926.6:c.805_806insTTGGCGTGGTCTCGGTCG	ENSP00000402152.2:p.Thr269delinsIleGlyValValSerValAla
ENST00000563236.5:c.805_806insTTGGCGTGGTCTCGGTCG	ENSP00000456149.1:p.Thr269delinsIleGlyValValSerValAla
ENST00000566786.5:c.802_803insTTGGCGTGGTCTCGGTCG	ENSP00000457552.1:p.Thr268delinsIleGlyValValSerValAla
NM_000339.2:c.805_806insTTGGCGTGGTCTCGGTCG	NP_000330.2:p.Thr269delinsIleGlyValValSerValAla
NM_001126107.1:c.802_803insTTGGCGTGGTCTCGGTCG	NP_001119579.1:p.Thr268delinsIleGlyValValSerValAla
NM_001126108.1:c.805_806insTTGGCGTGGTCTCGGTCG	NP_001119580.1:p.Thr269delinsIleGlyValValSerValAla
XM_005256119.1:c.802_803insTTGGCGTGGTCTCGGTCG	XP_005256176.1:p.Thr268delinsIleGlyValValSerValAla
XM_005256119.2:c.802_803insTTGGCGTGGTCTCGGTCG	XP_005256176.1:p.Thr268delinsIleGlyValValSerValAla
NM_000339.3:c.805_806insTTGGCGTGGTCTCGGTCG	NP_000330.3:p.Thr269delinsIleGlyValValSerValAla
NM_001126107.2:c.802_803insTTGGCGTGGTCTCGGTCG	NP_001119579.2:p.Thr268delinsIleGlyValValSerValAla
NM_001126108.2:c.805_806insTTGGCGTGGTCTCGGTCG MANE Select	NP_001119580.2:p.Thr269delinsIleGlyValValSerValAla