Canonical Allele Identifier: CA977655826

Gene: SLC12A3

Linked Data

• gnomAD v3: 16-56902517-A-AGGGGAGGGGG
• gnomAD v4: 16-56902517-A-AGGGGAGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902521_56902522insAGGGGGGGGG , CM000678.2:g.56902521_56902522insAGGGGGGGGG	GRCh38
NC_000016.9:g.56936433_56936434insAGGGGGGGGG , CM000678.1:g.56936433_56936434insAGGGGGGGGG	GRCh37
NC_000016.8:g.55493934_55493935insAGGGGGGGGG	NCBI36
NG_009386.1:g.42315_42316insAGGGGGGGGG
NG_009386.2:g.42315_42316insAGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2856+13_2856+14insAGGGGGGGGG MANE Select	ENSP00000456149.2:n.2856+13_2856+14insAGGGGGGGGG
ENST00000262502.5:c.2853+13_2853+14insAGGGGGGGGG	ENSP00000262502.5:n.2853+13_2853+14insAGGGGGGGGG
ENST00000438926.6:c.2883+13_2883+14insAGGGGGGGGG	ENSP00000402152.2:n.2883+13_2883+14insAGGGGGGGGG
ENST00000563236.5:c.2856+13_2856+14insAGGGGGGGGG	ENSP00000456149.1:n.2856+13_2856+14insAGGGGGGGGG
ENST00000566786.5:c.2880+13_2880+14insAGGGGGGGGG	ENSP00000457552.1:n.2880+13_2880+14insAGGGGGGGGG
ENST00000569002.1:n.287+13_287+14insAGGGGGGGGG
NM_000339.2:c.2883+13_2883+14insAGGGGGGGGG	NP_000330.2:n.2883+13_2883+14insAGGGGGGGGG
NM_001126107.1:c.2880+13_2880+14insAGGGGGGGGG	NP_001119579.1:n.2880+13_2880+14insAGGGGGGGGG
NM_001126108.1:c.2856+13_2856+14insAGGGGGGGGG	NP_001119580.1:n.2856+13_2856+14insAGGGGGGGGG
XM_005256119.1:c.2853+13_2853+14insAGGGGGGGGG	XP_005256176.1:n.2853+13_2853+14insAGGGGGGGGG
XM_005256119.2:c.2853+13_2853+14insAGGGGGGGGG	XP_005256176.1:n.2853+13_2853+14insAGGGGGGGGG
NM_000339.3:c.2883+13_2883+14insAGGGGGGGGG	NP_000330.3:n.2883+13_2883+14insAGGGGGGGGG
NM_001126107.2:c.2880+13_2880+14insAGGGGGGGGG	NP_001119579.2:n.2880+13_2880+14insAGGGGGGGGG
NM_001126108.2:c.2856+13_2856+14insAGGGGGGGGG MANE Select	NP_001119580.2:n.2856+13_2856+14insAGGGGGGGGG