Canonical Allele Identifier: CA2633375806

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56902517-A-AAGGGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902517_56902518insAGGGGGGGGGGG , CM000678.2:g.56902517_56902518insAGGGGGGGGGGG	GRCh38
NC_000016.9:g.56936429_56936430insAGGGGGGGGGGG , CM000678.1:g.56936429_56936430insAGGGGGGGGGGG	GRCh37
NC_000016.8:g.55493930_55493931insAGGGGGGGGGGG	NCBI36
NG_009386.1:g.42311_42312insAGGGGGGGGGGG
NG_009386.2:g.42311_42312insAGGGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.2856+9_2856+10insAGGGGGGGGGGG MANE Select	ENSP00000456149.2:n.2856+9_2856+10insAGGGGGGGGGGG
ENST00000262502.5:c.2853+9_2853+10insAGGGGGGGGGGG	ENSP00000262502.5:n.2853+9_2853+10insAGGGGGGGGGGG
ENST00000438926.6:c.2883+9_2883+10insAGGGGGGGGGGG	ENSP00000402152.2:n.2883+9_2883+10insAGGGGGGGGGGG
ENST00000563236.5:c.2856+9_2856+10insAGGGGGGGGGGG	ENSP00000456149.1:n.2856+9_2856+10insAGGGGGGGGGGG
ENST00000566786.5:c.2880+9_2880+10insAGGGGGGGGGGG	ENSP00000457552.1:n.2880+9_2880+10insAGGGGGGGGGGG
ENST00000569002.1:n.287+9_287+10insAGGGGGGGGGGG
NM_000339.2:c.2883+9_2883+10insAGGGGGGGGGGG	NP_000330.2:n.2883+9_2883+10insAGGGGGGGGGGG
NM_001126107.1:c.2880+9_2880+10insAGGGGGGGGGGG	NP_001119579.1:n.2880+9_2880+10insAGGGGGGGGGGG
NM_001126108.1:c.2856+9_2856+10insAGGGGGGGGGGG	NP_001119580.1:n.2856+9_2856+10insAGGGGGGGGGGG
XM_005256119.1:c.2853+9_2853+10insAGGGGGGGGGGG	XP_005256176.1:n.2853+9_2853+10insAGGGGGGGGGGG
XM_005256119.2:c.2853+9_2853+10insAGGGGGGGGGGG	XP_005256176.1:n.2853+9_2853+10insAGGGGGGGGGGG
NM_000339.3:c.2883+9_2883+10insAGGGGGGGGGGG	NP_000330.3:n.2883+9_2883+10insAGGGGGGGGGGG
NM_001126107.2:c.2880+9_2880+10insAGGGGGGGGGGG	NP_001119579.2:n.2880+9_2880+10insAGGGGGGGGGGG
NM_001126108.2:c.2856+9_2856+10insAGGGGGGGGGGG MANE Select	NP_001119580.2:n.2856+9_2856+10insAGGGGGGGGGGG