Canonical Allele Identifier: CA645585193

Gene: SLC12A3

Linked Data

• COSMIC: COSM32534

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56884172_56884181del , CM000678.2:g.56884172_56884181del	GRCh38
NC_000016.9:g.56918084_56918093del , CM000678.1:g.56918084_56918093del	GRCh37
NC_000016.8:g.55475585_55475594del	NCBI36
NG_009386.1:g.23966_23975del
NG_009386.2:g.23966_23975del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.1793_1802del MANE Select	ENSP00000456149.2:p.Phe598SerfsTer10
ENST00000262502.5:c.1790_1799del	ENSP00000262502.5:p.Phe597SerfsTer10
ENST00000438926.6:c.1793_1802del	ENSP00000402152.2:p.Phe598SerfsTer10
ENST00000563236.5:c.1793_1802del	ENSP00000456149.1:p.Phe598SerfsTer10
ENST00000566786.5:c.1790_1799del	ENSP00000457552.1:p.Phe597SerfsTer10
NM_000339.2:c.1793_1802del	NP_000330.2:p.Phe598SerfsTer10
NM_001126107.1:c.1790_1799del	NP_001119579.1:p.Phe597SerfsTer10
NM_001126108.1:c.1793_1802del	NP_001119580.1:p.Phe598SerfsTer10
XM_005256119.1:c.1790_1799del	XP_005256176.1:p.Phe597SerfsTer10
XM_005256119.2:c.1790_1799del	XP_005256176.1:p.Phe597SerfsTer10
NM_000339.3:c.1793_1802del	NP_000330.3:p.Phe598SerfsTer10
NM_001126107.2:c.1790_1799del	NP_001119579.2:p.Phe597SerfsTer10
NM_001126108.2:c.1793_1802del MANE Select	NP_001119580.2:p.Phe598SerfsTer10