Canonical Allele Identifier: CA2633371244

Gene: SLC12A3

Linked Data

• gnomAD v4: 16-56870218-GTGCGGGACC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56870222_56870230del , CM000678.2:g.56870222_56870230del	GRCh38
NC_000016.9:g.56904134_56904142del , CM000678.1:g.56904134_56904142del	GRCh37
NC_000016.8:g.55461635_55461643del	NCBI36
NG_009386.1:g.10016_10024del
NG_009386.2:g.10016_10024del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563236.6:c.728_736del MANE Select	ENSP00000456149.2:p.Arg243_Leu245del
ENST00000262502.5:c.725_733del	ENSP00000262502.5:p.Arg242_Leu244del
ENST00000438926.6:c.728_736del	ENSP00000402152.2:p.Arg243_Leu245del
ENST00000563236.5:c.728_736del	ENSP00000456149.1:p.Arg243_Leu245del
ENST00000566786.5:c.725_733del	ENSP00000457552.1:p.Arg242_Leu244del
NM_000339.2:c.728_736del	NP_000330.2:p.Arg243_Leu245del
NM_001126107.1:c.725_733del	NP_001119579.1:p.Arg242_Leu244del
NM_001126108.1:c.728_736del	NP_001119580.1:p.Arg243_Leu245del
XM_005256119.1:c.725_733del	XP_005256176.1:p.Arg242_Leu244del
XM_005256119.2:c.725_733del	XP_005256176.1:p.Arg242_Leu244del
NM_000339.3:c.728_736del	NP_000330.3:p.Arg243_Leu245del
NM_001126107.2:c.725_733del	NP_001119579.2:p.Arg242_Leu244del
NM_001126108.2:c.728_736del MANE Select	NP_001119580.2:p.Arg243_Leu245del