Canonical Allele Identifier: CA2843424438

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870722del , CM000678.2:g.56870722del	GRCh38
NC_000016.9:g.56904634del , CM000678.1:g.56904634del	GRCh37
NC_000016.8:g.55462135del	NCBI36
NG_009386.1:g.10516del
NG_009386.2:g.10516del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.838del MANE Select	ENSP00000456149.2:p.Glu280SerfsTer22
ENST00000262502.5:c.835del	ENSP00000262502.5:p.Glu279SerfsTer22
ENST00000438926.6:c.838del	ENSP00000402152.2:p.Glu280SerfsTer22
ENST00000563236.5:c.838del	ENSP00000456149.1:p.Glu280SerfsTer22
ENST00000566786.5:c.835del	ENSP00000457552.1:p.Glu279SerfsTer22
NM_000339.2:c.838del	NP_000330.2:p.Glu280SerfsTer22
NM_001126107.1:c.835del	NP_001119579.1:p.Glu279SerfsTer22
NM_001126108.1:c.838del	NP_001119580.1:p.Glu280SerfsTer22
XM_005256119.1:c.835del	XP_005256176.1:p.Glu279SerfsTer22
XM_005256119.2:c.835del	XP_005256176.1:p.Glu279SerfsTer22
NM_000339.3:c.838del	NP_000330.3:p.Glu280SerfsTer22
NM_001126107.2:c.835del	NP_001119579.2:p.Glu279SerfsTer22
NM_001126108.2:c.838del MANE Select	NP_001119580.2:p.Glu280SerfsTer22