Canonical Allele Identifier: CA2633375722

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56902515-A-AGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902516_56902517insGGGGGGG , CM000678.2:g.56902516_56902517insGGGGGGG	GRCh38
NC_000016.9:g.56936428_56936429insGGGGGGG , CM000678.1:g.56936428_56936429insGGGGGGG	GRCh37
NC_000016.8:g.55493929_55493930insGGGGGGG	NCBI36
NG_009386.1:g.42310_42311insGGGGGGG
NG_009386.2:g.42310_42311insGGGGGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.2856+8_2856+9insGGGGGGG MANE Select	ENSP00000456149.2:n.2856+8_2856+9insGGGGGGG
ENST00000262502.5:c.2853+8_2853+9insGGGGGGG	ENSP00000262502.5:n.2853+8_2853+9insGGGGGGG
ENST00000438926.6:c.2883+8_2883+9insGGGGGGG	ENSP00000402152.2:n.2883+8_2883+9insGGGGGGG
ENST00000563236.5:c.2856+8_2856+9insGGGGGGG	ENSP00000456149.1:n.2856+8_2856+9insGGGGGGG
ENST00000566786.5:c.2880+8_2880+9insGGGGGGG	ENSP00000457552.1:n.2880+8_2880+9insGGGGGGG
ENST00000569002.1:n.287+8_287+9insGGGGGGG
NM_000339.2:c.2883+8_2883+9insGGGGGGG	NP_000330.2:n.2883+8_2883+9insGGGGGGG
NM_001126107.1:c.2880+8_2880+9insGGGGGGG	NP_001119579.1:n.2880+8_2880+9insGGGGGGG
NM_001126108.1:c.2856+8_2856+9insGGGGGGG	NP_001119580.1:n.2856+8_2856+9insGGGGGGG
XM_005256119.1:c.2853+8_2853+9insGGGGGGG	XP_005256176.1:n.2853+8_2853+9insGGGGGGG
XM_005256119.2:c.2853+8_2853+9insGGGGGGG	XP_005256176.1:n.2853+8_2853+9insGGGGGGG
NM_000339.3:c.2883+8_2883+9insGGGGGGG	NP_000330.3:n.2883+8_2883+9insGGGGGGG
NM_001126107.2:c.2880+8_2880+9insGGGGGGG	NP_001119579.2:n.2880+8_2880+9insGGGGGGG
NM_001126108.2:c.2856+8_2856+9insGGGGGGG MANE Select	NP_001119580.2:n.2856+8_2856+9insGGGGGGG