Canonical Allele Identifier: CA2633370398

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56869833-T-TGG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56869833_56869834insGG , CM000678.2:g.56869833_56869834insGG	GRCh38
NC_000016.9:g.56903745_56903746insGG , CM000678.1:g.56903745_56903746insGG	GRCh37
NC_000016.8:g.55461246_55461247insGG	NCBI36
NG_009386.1:g.9627_9628insGG
NG_009386.2:g.9627_9628insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.601+9_601+10insGG MANE Select	ENSP00000456149.2:n.601+9_601+10insGG
ENST00000262502.5:c.598+9_598+10insGG	ENSP00000262502.5:n.598+9_598+10insGG
ENST00000438926.6:c.601+9_601+10insGG	ENSP00000402152.2:n.601+9_601+10insGG
ENST00000563236.5:c.601+9_601+10insGG	ENSP00000456149.1:n.601+9_601+10insGG
ENST00000566786.5:c.598+9_598+10insGG	ENSP00000457552.1:n.598+9_598+10insGG
NM_000339.2:c.601+9_601+10insGG	NP_000330.2:n.601+9_601+10insGG
NM_001126107.1:c.598+9_598+10insGG	NP_001119579.1:n.598+9_598+10insGG
NM_001126108.1:c.601+9_601+10insGG	NP_001119580.1:n.601+9_601+10insGG
XM_005256119.1:c.598+9_598+10insGG	XP_005256176.1:n.598+9_598+10insGG
XM_005256119.2:c.598+9_598+10insGG	XP_005256176.1:n.598+9_598+10insGG
NM_000339.3:c.601+9_601+10insGG	NP_000330.3:n.601+9_601+10insGG
NM_001126107.2:c.598+9_598+10insGG	NP_001119579.2:n.598+9_598+10insGG
NM_001126108.2:c.601+9_601+10insGG MANE Select	NP_001119580.2:n.601+9_601+10insGG