Canonical Allele Identifier: CA2224349552

Gene: SLC12A3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870674_56870675delinsGC , CM000678.2:g.56870674_56870675delinsGC	GRCh38
NC_000016.9:g.56904586_56904587delinsGC , CM000678.1:g.56904586_56904587delinsGC	GRCh37
NC_000016.8:g.55462087_55462088delinsGC	NCBI36
NG_009386.2:g.10468_10469delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000563236.6:c.790_791delinsGC MANE Select	ENSP00000456149.2:p.Ala264=
ENST00000262502.5:c.787_788delinsGC	ENSP00000262502.5:p.Ala263=
ENST00000438926.6:c.790_791delinsGC	ENSP00000402152.2:p.Ala264=
ENST00000563236.5:c.790_791delinsGC	ENSP00000456149.1:p.Ala264=
ENST00000566786.5:c.787_788delinsGC	ENSP00000457552.1:p.Ala263=
XM_005256119.1:c.787_788delinsGC	XP_005256176.1:p.Ala263=
XM_005256119.2:c.787_788delinsGC	XP_005256176.1:p.Ala263=
NM_000339.3:c.790_791delinsGC	NP_000330.3:p.Ala264=
NM_001126107.2:c.787_788delinsGC	NP_001119579.2:p.Ala263=
NM_001126108.2:c.790_791delinsGC MANE Select	NP_001119580.2:p.Ala264=