Canonical Allele Identifier: CA645573536

Gene: SLC12A3

Linked Data

• COSMIC: COSM4517072

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56865507_56865508delinsTT , CM000678.2:g.56865507_56865508delinsTT	GRCh38
NC_000016.9:g.56899419_56899420delinsTT , CM000678.1:g.56899419_56899420delinsTT	GRCh37
NC_000016.8:g.55456920_55456921delinsTT	NCBI36
NG_009386.1:g.5301_5302delinsTT
NG_009386.2:g.5301_5302delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.272_273delinsTT MANE Select	ENSP00000456149.2:p.Ser91Phe
ENST00000262502.5:c.272_273delinsTT	ENSP00000262502.5:p.Ser91Phe
ENST00000438926.6:c.272_273delinsTT	ENSP00000402152.2:p.Ser91Phe
ENST00000563236.5:c.272_273delinsTT	ENSP00000456149.1:p.Ser91Phe
ENST00000566786.5:c.272_273delinsTT	ENSP00000457552.1:p.Ser91Phe
NM_000339.2:c.272_273delinsTT	NP_000330.2:p.Ser91Phe
NM_001126107.1:c.272_273delinsTT	NP_001119579.1:p.Ser91Phe
NM_001126108.1:c.272_273delinsTT	NP_001119580.1:p.Ser91Phe
XM_005256119.1:c.272_273delinsTT	XP_005256176.1:p.Ser91Phe
XM_005256119.2:c.272_273delinsTT	XP_005256176.1:p.Ser91Phe
NM_000339.3:c.272_273delinsTT	NP_000330.3:p.Ser91Phe
NM_001126107.2:c.272_273delinsTT	NP_001119579.2:p.Ser91Phe
NM_001126108.2:c.272_273delinsTT MANE Select	NP_001119580.2:p.Ser91Phe