Canonical Allele Identifier: CA281496900

Gene: SLC12A3

Linked Data

• dbSNP Id: rs780806832
• gnomAD v4: 16-56870348-GAACCAC-G
• MyVariant Identifiers: chr16:g.56904261_56904266del (hg19) ; chr16:g.56870349_56870354del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870350_56870355del , CM000678.2:g.56870350_56870355del	GRCh38
NC_000016.9:g.56904262_56904267del , CM000678.1:g.56904262_56904267del	GRCh37
NC_000016.8:g.55461763_55461768del	NCBI36
NG_009386.1:g.10144_10149del
NG_009386.2:g.10144_10149del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.741+115_741+120del MANE Select	ENSP00000456149.2:n.741+115_741+120del
ENST00000262502.5:c.738+115_738+120del	ENSP00000262502.5:n.738+115_738+120del
ENST00000438926.6:c.741+115_741+120del	ENSP00000402152.2:n.741+115_741+120del
ENST00000563236.5:c.741+115_741+120del	ENSP00000456149.1:n.741+115_741+120del
ENST00000566786.5:c.738+115_738+120del	ENSP00000457552.1:n.738+115_738+120del
NM_000339.2:c.741+115_741+120del	NP_000330.2:n.741+115_741+120del
NM_001126107.1:c.738+115_738+120del	NP_001119579.1:n.738+115_738+120del
NM_001126108.1:c.741+115_741+120del	NP_001119580.1:n.741+115_741+120del
XM_005256119.1:c.738+115_738+120del	XP_005256176.1:n.738+115_738+120del
XM_005256119.2:c.738+115_738+120del	XP_005256176.1:n.738+115_738+120del
NM_000339.3:c.741+115_741+120del	NP_000330.3:n.741+115_741+120del
NM_001126107.2:c.738+115_738+120del	NP_001119579.2:n.738+115_738+120del
NM_001126108.2:c.741+115_741+120del MANE Select	NP_001119580.2:n.741+115_741+120del