Canonical Allele Identifier: CA2633375710

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56902515-A-AAGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902515_56902516insAGGGGGG , CM000678.2:g.56902515_56902516insAGGGGGG	GRCh38
NC_000016.9:g.56936427_56936428insAGGGGGG , CM000678.1:g.56936427_56936428insAGGGGGG	GRCh37
NC_000016.8:g.55493928_55493929insAGGGGGG	NCBI36
NG_009386.1:g.42309_42310insAGGGGGG
NG_009386.2:g.42309_42310insAGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2856+7_2856+8insAGGGGGG MANE Select	ENSP00000456149.2:n.2856+7_2856+8insAGGGGGG
ENST00000262502.5:c.2853+7_2853+8insAGGGGGG	ENSP00000262502.5:n.2853+7_2853+8insAGGGGGG
ENST00000438926.6:c.2883+7_2883+8insAGGGGGG	ENSP00000402152.2:n.2883+7_2883+8insAGGGGGG
ENST00000563236.5:c.2856+7_2856+8insAGGGGGG	ENSP00000456149.1:n.2856+7_2856+8insAGGGGGG
ENST00000566786.5:c.2880+7_2880+8insAGGGGGG	ENSP00000457552.1:n.2880+7_2880+8insAGGGGGG
ENST00000569002.1:n.287+7_287+8insAGGGGGG
NM_000339.2:c.2883+7_2883+8insAGGGGGG	NP_000330.2:n.2883+7_2883+8insAGGGGGG
NM_001126107.1:c.2880+7_2880+8insAGGGGGG	NP_001119579.1:n.2880+7_2880+8insAGGGGGG
NM_001126108.1:c.2856+7_2856+8insAGGGGGG	NP_001119580.1:n.2856+7_2856+8insAGGGGGG
XM_005256119.1:c.2853+7_2853+8insAGGGGGG	XP_005256176.1:n.2853+7_2853+8insAGGGGGG
XM_005256119.2:c.2853+7_2853+8insAGGGGGG	XP_005256176.1:n.2853+7_2853+8insAGGGGGG
NM_000339.3:c.2883+7_2883+8insAGGGGGG	NP_000330.3:n.2883+7_2883+8insAGGGGGG
NM_001126107.2:c.2880+7_2880+8insAGGGGGG	NP_001119579.2:n.2880+7_2880+8insAGGGGGG
NM_001126108.2:c.2856+7_2856+8insAGGGGGG MANE Select	NP_001119580.2:n.2856+7_2856+8insAGGGGGG