Canonical Allele Identifier: CA2224361244

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56894601_56894602delinsCG , CM000678.2:g.56894601_56894602delinsCG	GRCh38
NC_000016.9:g.56928513_56928514delinsCG , CM000678.1:g.56928513_56928514delinsCG	GRCh37
NC_000016.8:g.55486014_55486015delinsCG	NCBI36
NG_009386.1:g.34395_34396delinsCG
NG_009386.2:g.34395_34396delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.2592_2593delinsCG MANE Select	ENSP00000456149.2:p.Phe864=
ENST00000262502.5:c.2589_2590delinsCG	ENSP00000262502.5:p.Phe863=
ENST00000438926.6:c.2619_2620delinsCG	ENSP00000402152.2:p.Phe873=
ENST00000563236.5:c.2592_2593delinsCG	ENSP00000456149.1:p.Phe864=
ENST00000566786.5:c.2616_2617delinsCG	ENSP00000457552.1:p.Phe872=
NM_000339.2:c.2619_2620delinsCG	NP_000330.2:p.Phe873=
NM_001126107.1:c.2616_2617delinsCG	NP_001119579.1:p.Phe872=
NM_001126108.1:c.2592_2593delinsCG	NP_001119580.1:p.Phe864=
XM_005256119.1:c.2589_2590delinsCG	XP_005256176.1:p.Phe863=
XM_005256119.2:c.2589_2590delinsCG	XP_005256176.1:p.Phe863=
NM_000339.3:c.2619_2620delinsCG	NP_000330.3:p.Phe873=
NM_001126107.2:c.2616_2617delinsCG	NP_001119579.2:p.Phe872=
NM_001126108.2:c.2592_2593delinsCG MANE Select	NP_001119580.2:p.Phe864=