Canonical Allele Identifier: CA977655848

Gene: SLC12A3

Linked Data

• gnomAD v3: 16-56902522-T-TGGGGGGGGGAGGGGG
• gnomAD v4: 16-56902522-T-TGGGGGGGGGAGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902527_56902528insGGGGAGGGGGGGGGG , CM000678.2:g.56902527_56902528insGGGGAGGGGGGGGGG	GRCh38
NC_000016.9:g.56936439_56936440insGGGGAGGGGGGGGGG , CM000678.1:g.56936439_56936440insGGGGAGGGGGGGGGG	GRCh37
NC_000016.8:g.55493940_55493941insGGGGAGGGGGGGGGG	NCBI36
NG_009386.1:g.42321_42322insGGGGAGGGGGGGGGG
NG_009386.2:g.42321_42322insGGGGAGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2856+19_2856+20insGGGGAGGGGGGGGGG MANE Select	ENSP00000456149.2:n.2856+19_2856+20insGGGGAGGGGGGGGGG
ENST00000262502.5:c.2853+19_2853+20insGGGGAGGGGGGGGGG	ENSP00000262502.5:n.2853+19_2853+20insGGGGAGGGGGGGGGG
ENST00000438926.6:c.2883+19_2883+20insGGGGAGGGGGGGGGG	ENSP00000402152.2:n.2883+19_2883+20insGGGGAGGGGGGGGGG
ENST00000563236.5:c.2856+19_2856+20insGGGGAGGGGGGGGGG	ENSP00000456149.1:n.2856+19_2856+20insGGGGAGGGGGGGGGG
ENST00000566786.5:c.2880+19_2880+20insGGGGAGGGGGGGGGG	ENSP00000457552.1:n.2880+19_2880+20insGGGGAGGGGGGGGGG
ENST00000569002.1:n.287+19_287+20insGGGGAGGGGGGGGGG
NM_000339.2:c.2883+19_2883+20insGGGGAGGGGGGGGGG	NP_000330.2:n.2883+19_2883+20insGGGGAGGGGGGGGGG
NM_001126107.1:c.2880+19_2880+20insGGGGAGGGGGGGGGG	NP_001119579.1:n.2880+19_2880+20insGGGGAGGGGGGGGGG
NM_001126108.1:c.2856+19_2856+20insGGGGAGGGGGGGGGG	NP_001119580.1:n.2856+19_2856+20insGGGGAGGGGGGGGGG
XM_005256119.1:c.2853+19_2853+20insGGGGAGGGGGGGGGG	XP_005256176.1:n.2853+19_2853+20insGGGGAGGGGGGGGGG
XM_005256119.2:c.2853+19_2853+20insGGGGAGGGGGGGGGG	XP_005256176.1:n.2853+19_2853+20insGGGGAGGGGGGGGGG
NM_000339.3:c.2883+19_2883+20insGGGGAGGGGGGGGGG	NP_000330.3:n.2883+19_2883+20insGGGGAGGGGGGGGGG
NM_001126107.2:c.2880+19_2880+20insGGGGAGGGGGGGGGG	NP_001119579.2:n.2880+19_2880+20insGGGGAGGGGGGGGGG
NM_001126108.2:c.2856+19_2856+20insGGGGAGGGGGGGGGG MANE Select	NP_001119580.2:n.2856+19_2856+20insGGGGAGGGGGGGGGG