Canonical Allele Identifier: CA2633375791

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56902517-A-AGGGTGAAGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902520_56902521insTGAAGGGGGGG , CM000678.2:g.56902520_56902521insTGAAGGGGGGG	GRCh38
NC_000016.9:g.56936432_56936433insTGAAGGGGGGG , CM000678.1:g.56936432_56936433insTGAAGGGGGGG	GRCh37
NC_000016.8:g.55493933_55493934insTGAAGGGGGGG	NCBI36
NG_009386.1:g.42314_42315insTGAAGGGGGGG
NG_009386.2:g.42314_42315insTGAAGGGGGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.2856+12_2856+13insTGAAGGGGGGG MANE Select	ENSP00000456149.2:n.2856+12_2856+13insTGAAGGGGGGG
ENST00000262502.5:c.2853+12_2853+13insTGAAGGGGGGG	ENSP00000262502.5:n.2853+12_2853+13insTGAAGGGGGGG
ENST00000438926.6:c.2883+12_2883+13insTGAAGGGGGGG	ENSP00000402152.2:n.2883+12_2883+13insTGAAGGGGGGG
ENST00000563236.5:c.2856+12_2856+13insTGAAGGGGGGG	ENSP00000456149.1:n.2856+12_2856+13insTGAAGGGGGGG
ENST00000566786.5:c.2880+12_2880+13insTGAAGGGGGGG	ENSP00000457552.1:n.2880+12_2880+13insTGAAGGGGGGG
ENST00000569002.1:n.287+12_287+13insTGAAGGGGGGG
NM_000339.2:c.2883+12_2883+13insTGAAGGGGGGG	NP_000330.2:n.2883+12_2883+13insTGAAGGGGGGG
NM_001126107.1:c.2880+12_2880+13insTGAAGGGGGGG	NP_001119579.1:n.2880+12_2880+13insTGAAGGGGGGG
NM_001126108.1:c.2856+12_2856+13insTGAAGGGGGGG	NP_001119580.1:n.2856+12_2856+13insTGAAGGGGGGG
XM_005256119.1:c.2853+12_2853+13insTGAAGGGGGGG	XP_005256176.1:n.2853+12_2853+13insTGAAGGGGGGG
XM_005256119.2:c.2853+12_2853+13insTGAAGGGGGGG	XP_005256176.1:n.2853+12_2853+13insTGAAGGGGGGG
NM_000339.3:c.2883+12_2883+13insTGAAGGGGGGG	NP_000330.3:n.2883+12_2883+13insTGAAGGGGGGG
NM_001126107.2:c.2880+12_2880+13insTGAAGGGGGGG	NP_001119579.2:n.2880+12_2880+13insTGAAGGGGGGG
NM_001126108.2:c.2856+12_2856+13insTGAAGGGGGGG MANE Select	NP_001119580.2:n.2856+12_2856+13insTGAAGGGGGGG