Canonical Allele Identifier: CA2633375697

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56902513-A-AGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902514_56902515insGGGG , CM000678.2:g.56902514_56902515insGGGG	GRCh38
NC_000016.9:g.56936426_56936427insGGGG , CM000678.1:g.56936426_56936427insGGGG	GRCh37
NC_000016.8:g.55493927_55493928insGGGG	NCBI36
NG_009386.1:g.42308_42309insGGGG
NG_009386.2:g.42308_42309insGGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.2856+6_2856+7insGGGG MANE Select	ENSP00000456149.2:n.2856+6_2856+7insGGGG
ENST00000262502.5:c.2853+6_2853+7insGGGG	ENSP00000262502.5:n.2853+6_2853+7insGGGG
ENST00000438926.6:c.2883+6_2883+7insGGGG	ENSP00000402152.2:n.2883+6_2883+7insGGGG
ENST00000563236.5:c.2856+6_2856+7insGGGG	ENSP00000456149.1:n.2856+6_2856+7insGGGG
ENST00000566786.5:c.2880+6_2880+7insGGGG	ENSP00000457552.1:n.2880+6_2880+7insGGGG
ENST00000569002.1:n.287+6_287+7insGGGG
NM_000339.2:c.2883+6_2883+7insGGGG	NP_000330.2:n.2883+6_2883+7insGGGG
NM_001126107.1:c.2880+6_2880+7insGGGG	NP_001119579.1:n.2880+6_2880+7insGGGG
NM_001126108.1:c.2856+6_2856+7insGGGG	NP_001119580.1:n.2856+6_2856+7insGGGG
XM_005256119.1:c.2853+6_2853+7insGGGG	XP_005256176.1:n.2853+6_2853+7insGGGG
XM_005256119.2:c.2853+6_2853+7insGGGG	XP_005256176.1:n.2853+6_2853+7insGGGG
NM_000339.3:c.2883+6_2883+7insGGGG	NP_000330.3:n.2883+6_2883+7insGGGG
NM_001126107.2:c.2880+6_2880+7insGGGG	NP_001119579.2:n.2880+6_2880+7insGGGG
NM_001126108.2:c.2856+6_2856+7insGGGG MANE Select	NP_001119580.2:n.2856+6_2856+7insGGGG