Canonical Allele Identifier: CA8069097

Gene: SLC12A3

Linked Data

• dbSNP Id: rs773853559
• ExAC: 16:56903689 CAG / C
• gnomAD v2: 16-56903689-CAG-C
• gnomAD v4: 16-56869777-CAG-C
• MyVariant Identifiers: chr16:g.56903690_56903691del (hg19) ; chr16:g.56869778_56869779del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56869778_56869779del , CM000678.2:g.56869778_56869779del	GRCh38
NC_000016.9:g.56903690_56903691del , CM000678.1:g.56903690_56903691del	GRCh37
NC_000016.8:g.55461191_55461192del	NCBI36
NG_009386.1:g.9572_9573del
NG_009386.2:g.9572_9573del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.555_556del MANE Select	ENSP00000456149.2:p.Gly186ProfsTer?
ENST00000262502.5:c.552_553del	ENSP00000262502.5:p.Gly185ProfsTer?
ENST00000438926.6:c.555_556del	ENSP00000402152.2:p.Gly186ProfsTer?
ENST00000563236.5:c.555_556del	ENSP00000456149.1:p.Gly186ProfsTer?
ENST00000566786.5:c.552_553del	ENSP00000457552.1:p.Gly185ProfsTer?
NM_000339.2:c.555_556del	NP_000330.2:p.Gly186ProfsTer?
NM_001126107.1:c.552_553del	NP_001119579.1:p.Gly185ProfsTer?
NM_001126108.1:c.555_556del	NP_001119580.1:p.Gly186ProfsTer?
XM_005256119.1:c.552_553del	XP_005256176.1:p.Gly185ProfsTer?
XM_005256119.2:c.552_553del	XP_005256176.1:p.Gly185ProfsTer?
NM_000339.3:c.555_556del	NP_000330.3:p.Gly186ProfsTer?
NM_001126107.2:c.552_553del	NP_001119579.2:p.Gly185ProfsTer?
NM_001126108.2:c.555_556del MANE Select	NP_001119580.2:p.Gly186ProfsTer?