Canonical Allele Identifier: CA2697555859

Gene: SLC12A3

Linked Data

• ClinVar Variation Id: 2716575
• ClinVar RCV Id: RCV003546247

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56879124del , CM000678.2:g.56879124del	GRCh38
NC_000016.9:g.56913036del , CM000678.1:g.56913036del	GRCh37
NC_000016.8:g.55470537del	NCBI36
NG_009386.1:g.18918del
NG_009386.2:g.18918del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1232del MANE Select	ENSP00000456149.2:p.Pro411LeufsTer?
ENST00000262502.5:c.1229del	ENSP00000262502.5:p.Pro410LeufsTer?
ENST00000438926.6:c.1232del	ENSP00000402152.2:p.Pro411LeufsTer?
ENST00000563236.5:c.1232del	ENSP00000456149.1:p.Pro411LeufsTer?
ENST00000566786.5:c.1229del	ENSP00000457552.1:p.Pro410LeufsTer?
NM_000339.2:c.1232del	NP_000330.2:p.Pro411LeufsTer?
NM_001126107.1:c.1229del	NP_001119579.1:p.Pro410LeufsTer?
NM_001126108.1:c.1232del	NP_001119580.1:p.Pro411LeufsTer?
XM_005256119.1:c.1229del	XP_005256176.1:p.Pro410LeufsTer?
XM_005256119.2:c.1229del	XP_005256176.1:p.Pro410LeufsTer?
NM_000339.3:c.1232del	NP_000330.3:p.Pro411LeufsTer?
NM_001126107.2:c.1229del	NP_001119579.2:p.Pro410LeufsTer?
NM_001126108.2:c.1232del MANE Select	NP_001119580.2:p.Pro411LeufsTer?