Canonical Allele Identifier: CA622341884

Gene: SLC12A3

Linked Data

• dbSNP Id: rs780845408
• gnomAD v2: 16-56936429-A-AGGGGGGGGGG
• gnomAD v3: 16-56902517-A-AGGGGGGGGGG
• gnomAD v4: 16-56902517-A-AGGGGGGGGGG
• MyVariant Identifiers: chr16:g.56936429_56936430insGGGGGGGGGG (hg19) ; chr16:g.56902517_56902518insGGGGGGGGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902521_56902522insGGGGGGGGGG , CM000678.2:g.56902521_56902522insGGGGGGGGGG	GRCh38
NC_000016.9:g.56936433_56936434insGGGGGGGGGG , CM000678.1:g.56936433_56936434insGGGGGGGGGG	GRCh37
NC_000016.8:g.55493934_55493935insGGGGGGGGGG	NCBI36
NG_009386.1:g.42315_42316insGGGGGGGGGG
NG_009386.2:g.42315_42316insGGGGGGGGGG

Transcript Alleles

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