Canonical Allele Identifier: CA2633375871

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56902525-GGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56902528_56902530del , CM000678.2:g.56902528_56902530del	GRCh38
NC_000016.9:g.56936440_56936442del , CM000678.1:g.56936440_56936442del	GRCh37
NC_000016.8:g.55493941_55493943del	NCBI36
NG_009386.1:g.42322_42324del
NG_009386.2:g.42322_42324del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2856+20_2856+22del MANE Select	ENSP00000456149.2:n.2856+20_2856+22del
ENST00000262502.5:c.2853+20_2853+22del	ENSP00000262502.5:n.2853+20_2853+22del
ENST00000438926.6:c.2883+20_2883+22del	ENSP00000402152.2:n.2883+20_2883+22del
ENST00000563236.5:c.2856+20_2856+22del	ENSP00000456149.1:n.2856+20_2856+22del
ENST00000566786.5:c.2880+20_2880+22del	ENSP00000457552.1:n.2880+20_2880+22del
ENST00000569002.1:n.287+20_287+22del
NM_000339.2:c.2883+20_2883+22del	NP_000330.2:n.2883+20_2883+22del
NM_001126107.1:c.2880+20_2880+22del	NP_001119579.1:n.2880+20_2880+22del
NM_001126108.1:c.2856+20_2856+22del	NP_001119580.1:n.2856+20_2856+22del
XM_005256119.1:c.2853+20_2853+22del	XP_005256176.1:n.2853+20_2853+22del
XM_005256119.2:c.2853+20_2853+22del	XP_005256176.1:n.2853+20_2853+22del
NM_000339.3:c.2883+20_2883+22del	NP_000330.3:n.2883+20_2883+22del
NM_001126107.2:c.2880+20_2880+22del	NP_001119579.2:n.2880+20_2880+22del
NM_001126108.2:c.2856+20_2856+22del MANE Select	NP_001119580.2:n.2856+20_2856+22del